ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3810C>A (p.His1270Gln)

gnomAD frequency: 0.00002  dbSNP: rs755013572
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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 RCV001359624 SCV001555499 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2021-09-16 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: "Benign"; Align-GVGD: "Class C15"). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 25382069). This variant is present in population databases (rs755013572, ExAC 0.002%). This sequence change replaces histidine with glutamine at codon 1270 of the DCTN1 protein (p.His1270Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine.

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