ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.19466C>T (p.Ala6489Val)

gnomAD frequency: 0.00001  dbSNP: rs766294952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239368 SCV001412239 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-04-15 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3866 of the DST protein (p.Ala3866Val). The DST gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_015548.4, and corresponds to NM_001723.5:c.*111420C>T in the primary transcript. This variant has not been reported in the literature in individuals affected with DST-related conditions. 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 may create or strengthen a splice site.
Ambry Genetics RCV002379913 SCV002693815 uncertain significance Inborn genetic diseases 2019-12-07 criteria provided, single submitter clinical testing The p.A4370V variant (also known as c.13109C>T), located in coding exon 72 of the DST gene, results from a C to T substitution at nucleotide position 13109. The alanine at codon 4370 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Center for Mendelian Genomics, University of Washington RCV004704473 SCV001439065 likely pathogenic Moyamoya angiopathy no assertion criteria provided research

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