ClinVar Miner

Submissions for variant NM_014476.6(PDLIM3):c.678G>A (p.Ser226=)

gnomAD frequency: 0.02917  dbSNP: rs34943562
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127425 SCV000170989 benign not specified 2014-07-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000127425 SCV000269635 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser226Ser in exon 6 of PDLIM3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 10.6% (467/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs34943562).
Labcorp Genetics (formerly Invitae), Labcorp RCV000463435 SCV000555691 benign Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000127425 SCV000739773 likely benign not specified 2022-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000127425 SCV003928405 benign not specified 2023-04-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717054 SCV005306560 benign not provided criteria provided, single submitter not provided

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