ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2439C>G (p.Ile813Met)

gnomAD frequency: 0.00001  dbSNP: rs1313684238
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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 RCV002014911 SCV002262758 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 813 of the DCTN1 protein (p.Ile813Met). 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 C0"). ClinVar contains an entry for this variant (Variation ID: 1476788). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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