ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser)

dbSNP: rs1674861180
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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 RCV001213537 SCV001385172 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2019-05-16 criteria provided, single submitter clinical testing 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 C65"). 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. This variant has not been reported in the literature in individuals with DCTN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 183 of the DCTN1 protein (p.Pro183Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.

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