ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.4046C>T (p.Ala1349Val)

gnomAD frequency: 0.00029  dbSNP: rs150656535
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000351516 SCV000464295 uncertain significance Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000693341 SCV000821206 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-10-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 812 of the DST protein (p.Ala812Val). This variant is present in population databases (rs150656535, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with DST-related conditions. ClinVar contains an entry for this variant (Variation ID: 357601). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
CeGaT Center for Human Genetics Tuebingen RCV001091113 SCV001246971 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356487 SCV002621012 uncertain significance Inborn genetic diseases 2022-08-24 criteria provided, single submitter clinical testing The p.A1316V variant (also known as c.3947C>T), located in coding exon 29 of the DST gene, results from a C to T substitution at nucleotide position 3947. The alanine at codon 1316 is replaced by valine, an amino acid with similar properties. This amino acid position is 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.
Inherited Neuropathy Consortium RCV001027479 SCV001190050 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided research

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