ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.1802G>C (p.Gly601Ala)

gnomAD frequency: 0.00002  dbSNP: rs370192633
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978413 SCV002269580 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-07-13 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1489826). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (rs370192633, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 601 of the DCTN1 protein (p.Gly601Ala).
AiLife Diagnostics, AiLife Diagnostics RCV002224133 SCV002502180 uncertain significance not provided 2022-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003408053 SCV004111777 uncertain significance DCTN1-related disorder 2022-10-18 criteria provided, single submitter clinical testing The DCTN1 c.1802G>C variant is predicted to result in the amino acid substitution p.Gly601Ala. This variant was reported in a study of individuals with familial amyotrophic lateral sclerosis (FALS), although no additional evidence was provided that could help establish its pathogenicity (reported as G601A in Corcia et al. 2021. PubMed ID: 33408239). This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-74595907-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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