ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys)

gnomAD frequency: 0.00003  dbSNP: rs538932463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881760 SCV002151702 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2023-03-29 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1387060). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (rs538932463, gnomAD 0.02%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 1266 of the DCTN1 protein (p.Gln1266Lys).
Breakthrough Genomics, Breakthrough Genomics RCV004693874 SCV005187766 uncertain significance not provided criteria provided, single submitter not provided

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