ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3843C>T (p.Gly1281=)

gnomAD frequency: 0.00001  dbSNP: rs757848395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425135 SCV000512880 likely benign not specified 2016-03-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001446517 SCV001649564 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488877 SCV002801578 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-09-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995953 SCV004836869 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619285 SCV005117220 likely benign Cardiovascular phenotype 2024-05-17 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.

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