ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.531C>G (p.Gly177=)

gnomAD frequency: 0.00032  dbSNP: rs138865799
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154706 SCV000204385 likely benign not specified 2015-06-12 criteria provided, single submitter clinical testing p.Gly177Gly in exon 4 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (11/10406) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs138865799).
Labcorp Genetics (formerly Invitae), Labcorp RCV001088325 SCV000763487 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000827694 SCV000969352 likely benign not provided 2018-05-09 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.
Color Diagnostics, LLC DBA Color Health RCV001186912 SCV001353524 likely benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345498 SCV002644969 likely benign Cardiovascular phenotype 2019-07-10 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.
All of Us Research Program, National Institutes of Health RCV003998263 SCV004822186 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-12-18 criteria provided, single submitter clinical testing

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