ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.1592A>G (p.Asn531Ser)

dbSNP: rs367910524
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001312328 SCV001502776 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2020-04-23 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DCTN1-related conditions. This variant is present in population databases (rs367910524, ExAC 0.001%). This sequence change replaces asparagine with serine at codon 531 of the DCTN1 protein (p.Asn531Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.

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