ClinVar Miner

Submissions for variant NM_001723.7(DST):c.4060C>A (p.Gln1354Lys)

gnomAD frequency: 0.00156  dbSNP: rs35599167
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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 RCV000873513 SCV001015516 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-12-30 criteria provided, single submitter clinical testing
GeneDx RCV002284448 SCV002574685 uncertain significance not provided 2022-09-14 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586968 SCV005076614 likely benign not specified 2024-04-24 criteria provided, single submitter clinical testing Variant summary: DST c.4060C>A (p.Gln1354Lys) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00053 in 251168 control chromosomes, predominantly at a frequency of 0.006 within the African or African-American subpopulation in the gnomAD database. To our knowledge, no occurrence of c.4060C>A in individuals affected with DST-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 703770). Based on the evidence outlined above, the variant was classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV003948207 SCV004765346 likely benign DST-related disorder 2020-05-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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