ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4104C>A (p.Thr1368=)

gnomAD frequency: 0.00002  dbSNP: rs1464715776
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998525 SCV001154642 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001453306 SCV001656991 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000998525 SCV001935815 likely benign not provided 2019-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320213 SCV002626896 likely benign Cardiovascular phenotype 2021-07-31 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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