A total 16 pathogenic variants reported in gene PDZ and LIM domain 3 (PDLIM3)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014476.6(PDLIM3):c.1027A>G (p.Thr343Ala) SNV
Germline		 Chr4:185502362 Conflicting classifications of pathogenicity Condition: not provided
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA247709 rs_569673500

3 SubmittersRCV000180318RCV001485614RCV005702156
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) SNV
Germline		 Chr4:185506600 Conflicting classifications of pathogenicity not specified
Familial cardiomyopathy
Condition: not provided
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA335485 rs_142143310

7 SubmittersRCV000221631RCV000509295RCV000786183RCV001082207
NM_014476.6(PDLIM3):c.29C>T (p.Pro10Leu) SNV
Germline		 Chr4:185535406 Conflicting classifications of pathogenicity Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA335479 rs_146768859

3 SubmittersRCV000456516RCV000852989RCV001721144
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met) SNV
Germline		 Chr4:185535424 Conflicting classifications of pathogenicity not specified
Condition: not provided
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA335491 rs_781358846

5 SubmittersRCV000183698RCV000766562RCV001364044
NM_014476.6(PDLIM3):c.399-10A>G SNV
Germline		 Chr4:185508572 Conflicting classifications of pathogenicity not specified
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3159785 rs_199979457

3 SubmittersRCV000217342RCV000629185RCV001705203
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) SNV
Germline		 Chr4:185525096 Conflicting classifications of pathogenicity not specified
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3159890 rs_142951316

7 SubmittersRCV000213791RCV000462391RCV001701792
NM_014476.6(PDLIM3):c.246G>A (p.Arg82=) SNV
Germline		 Chr4:185523446 Conflicting classifications of pathogenicity not specified
Hypertrophic cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided
Melanoma		 Criteria Provided
Conflicting Classifications
 CA3159863 rs_200354645

6 SubmittersRCV000428953RCV000468238RCV001702447RCV005896451
NM_014476.6(PDLIM3):c.330+6C>T SNV
Germline		 Chr4:185523356 Conflicting classifications of pathogenicity not specified
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA3159851 rs_373377356

2 SubmittersRCV000599678RCV001860283
NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu) SNV
Germline		 Chr4:185506632 Conflicting classifications of pathogenicity Cardiovascular phenotype
Hypertrophic cardiomyopathy
Primary dilated cardiomyopathy
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA3159726 rs_201185673

4 SubmittersRCV000619173RCV000629182RCV001756013RCV005407813
NM_014476.6(PDLIM3):c.365G>A (p.Arg122Gln) SNV
Germline		 Chr4:185514303 Conflicting classifications of pathogenicity Restrictive cardiomyopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA3159805 rs_751951109

2 SubmittersRCV000852988RCV004029274
NM_014476.6(PDLIM3):c.722G>A (p.Arg241Gln) SNV
Germline		 Chr4:185506593 Conflicting classifications of pathogenicity Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA3159712 rs_775988516

3 SubmittersRCV003103375RCV004055789
NM_014476.6(PDLIM3):c.774A>T (p.Gly258=) SNV
Germline		 Chr4:185506541 Conflicting classifications of pathogenicity not specified
Hypertrophic cardiomyopathy
Primary dilated cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA3159704 rs_370141697

2 SubmittersRCV004054643RCV006559141
NM_014476.6(PDLIM3):c.663C>T (p.Ser221=) SNV
Germline		 Chr4:185506652 Conflicting classifications of pathogenicity Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA3159729 rs_781448134

2 SubmittersRCV002957335RCV004067202
NM_014476.6(PDLIM3):c.784G>A (p.Asp262Asn) SNV
Germline		 Chr4:185506531 Conflicting classifications of pathogenicity Condition: not provided
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA3159702 rs_750021846

3 SubmittersRCV003436037RCV003778112RCV004364381
NM_014476.6(PDLIM3):c.869G>A (p.Arg290Lys) SNV
Germline		 Chr4:185504511 Conflicting classifications of pathogenicity Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA358921121 rs_2095693278

2 SubmittersRCV003789362RCV005455876