ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3556A>G (p.Met1186Val)

dbSNP: rs1477782343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690954 SCV000818685 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2020-11-21 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 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 C0"). This variant has not been reported in the literature in individuals with DCTN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 570153). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 1186 of the DCTN1 protein (p.Met1186Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine.

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