ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.857C>T (p.Ala286Val)

dbSNP: rs896989123
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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 RCV001242802 SCV001415914 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-02-23 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 C55"). ClinVar contains an entry for this variant (Variation ID: 967804). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 286 of the DCTN1 protein (p.Ala286Val).
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo RCV002221617 SCV001977116 uncertain significance Charcot-Marie-Tooth disease type 2 2021-07-20 criteria provided, single submitter research The c.857C>T (p.Ala286Val) variant in the DCTN1 gene has not been described in the literature to our knowledge. Our lab found it in one family, in heterozygous, in two young brothers with CMT2 phenotype. This variant replaces Alanine with Valine at codon 286 of the DCTN1 protein that is highly conserved across different species. This variant is present in the GnomAD population database (rs896989123; 0.04003e-4) at a low frequency, but absent from the ABraOM population database, suggesting it is not a common benign variant in these populations. ClinVar contains an entry for this variant (Variation ID: 967804), and it is classified as Uncertain significance, 1 star. In summary, the available evidence is insufficient to determine the clinical significance of this variant. Therefore, it has been classified as a variant of uncertain significance (VUS).

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