ClinVar Miner

Submissions for variant NM_001723.7(DST):c.4961C>T (p.Ala1654Val)

gnomAD frequency: 0.00182  dbSNP: rs150229184
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536703 SCV000654524 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001700155 SCV003929803 likely benign not provided 2022-09-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genetics, Academic Medical Center RCV001700155 SCV001921763 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700155 SCV001970467 uncertain significance not provided no assertion criteria provided clinical testing

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