ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.1610A>G (p.Gln537Arg)

gnomAD frequency: 0.00001  dbSNP: rs4994503
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340033 SCV001533822 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-07-03 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1036954). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (rs4994503, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 537 of the DCTN1 protein (p.Gln537Arg).

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