ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3803A>G (p.Gln1268Arg)

dbSNP: rs751431467
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644470 SCV000766168 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2023-01-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1268 of the DCTN1 protein (p.Gln1268Arg). ClinVar contains an entry for this variant (Variation ID: 536155). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (rs751431467, gnomAD 0.0009%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.

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