ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3400C>G (p.Leu1134Val)

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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 RCV003795725 SCV004578309 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1134 of the DCTN1 protein (p.Leu1134Val). This variant is present in population databases (rs764422437, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. 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 not expected to disrupt DCTN1 protein function. 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.
Ambry Genetics RCV004366583 SCV004854784 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.3400C>G (p.L1134V) alteration is located in exon 29 (coding exon 29) of the DCTN1 gene. This alteration results from a C to G substitution at nucleotide position 3400, causing the leucine (L) at amino acid position 1134 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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