ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.1841G>A (p.Arg614His)

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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 RCV003005743 SCV003301044 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-01-26 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 614 of the DCTN1 protein (p.Arg614His).
Ambry Genetics RCV005323284 SCV005986175 uncertain significance Inborn genetic diseases 2025-01-09 criteria provided, single submitter clinical testing The c.1841G>A (p.R614H) alteration is located in exon 16 (coding exon 16) of the DCTN1 gene. This alteration results from a G to A substitution at nucleotide position 1841, causing the arginine (R) at amino acid position 614 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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