ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys)

gnomAD frequency: 0.00001  dbSNP: rs751177222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095500 SCV001251094 benign Amyotrophic lateral sclerosis 2020-03-31 criteria provided, single submitter research
Invitae RCV001856287 SCV002212296 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-11-17 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DCTN1 protein function. ClinVar contains an entry for this variant (Variation ID: 873286). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 32579787). This variant is present in population databases (rs751177222, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 32 of the DCTN1 protein (p.Arg32Cys).

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