ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2779C>T (p.Arg927Trp)

gnomAD frequency: 0.00001  dbSNP: rs758168607
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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 RCV000805454 SCV000945411 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-08-07 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 650325). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (rs758168607, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 927 of the DCTN1 protein (p.Arg927Trp).
Ambry Genetics RCV002440713 SCV002746276 uncertain significance Inborn genetic diseases 2020-01-13 criteria provided, single submitter clinical testing The p.R927W variant (also known as c.2779C>T), located in coding exon 24 of the DCTN1 gene, results from a C to T substitution at nucleotide position 2779. The arginine at codon 927 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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