ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.1872T>G (p.Ser624=)

gnomAD frequency: 0.00001  dbSNP: rs994026153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651726 SCV000773580 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2023-08-30 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 541439). This variant has not been reported in the literature in individuals affected with DST-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.04%). This sequence change affects codon 87 of the DST mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DST protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV002397307 SCV002713922 likely benign Inborn genetic diseases 2021-03-12 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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