ClinVar Miner

Submissions for variant NM_015548.5(DST):c.2435C>T (p.Ala812Val) (rs150656535)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351516 SCV000464295 uncertain significance Neuropathy, hereditary sensory and autonomic, type VI 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000693341 SCV000821206 uncertain significance Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 812 of the DST protein (p.Ala812Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs150656535, ExAC 0.06%). This variant has not been reported in the literature in individuals with DST-related disease. ClinVar contains an entry for this variant (Variation ID: 357601). Algorithms developed to predict the effect of missense changes on protein structure and function 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 Praxis fuer Humangenetik Tuebingen RCV001091113 SCV001246971 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV001027479 SCV001190050 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided research

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