ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.428G>A (p.Arg143Gln)

dbSNP: rs764615912
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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 RCV001966743 SCV002257098 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2021-07-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 143 of the DCTN1 protein (p.Arg143Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is present in population databases (rs764615912, ExAC 0.003%).
Ambry Genetics RCV004042168 SCV004854787 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.428G>A (p.R143Q) alteration is located in exon 6 (coding exon 6) of the DCTN1 gene. This alteration results from a G to A substitution at nucleotide position 428, causing the arginine (R) at amino acid position 143 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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