ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3280C>T (p.Leu1094Phe)

dbSNP: rs762263842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243523 SCV001416691 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2019-10-10 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with DCTN1-related conditions. This variant is present in population databases (rs762263842, ExAC 0.002%). This sequence change replaces leucine with phenylalanine at codon 1094 of the DCTN1 protein (p.Leu1094Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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