ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp)

gnomAD frequency: 0.00006  dbSNP: rs186788522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001911550 SCV002171350 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-09-07 criteria provided, single submitter clinical testing The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*62214G>C in the primary transcript. This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 2540 of the DST protein (p.Glu2540Asp). This variant is present in population databases (rs186788522, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DST-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002370479 SCV002685622 likely benign Inborn genetic diseases 2021-08-06 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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