ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.15161C>T (p.Ser5054Leu)

gnomAD frequency: 0.00001  dbSNP: rs374048995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880947 SCV002142877 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-09-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DST-related conditions. This variant is present in population databases (rs374048995, gnomAD 0.03%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2431 of the DST protein (p.Ser2431Leu). The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*61886C>T in the primary transcript.
Mayo Clinic Laboratories, Mayo Clinic RCV004793559 SCV005407869 uncertain significance not provided 2024-08-02 criteria provided, single submitter clinical testing BP4_moderate

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