ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2954A>G (p.Lys985Arg)

gnomAD frequency: 0.00003  dbSNP: rs751782015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992063 SCV002285187 uncertain significance Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2024-07-03 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 985 of the DCTN1 protein (p.Lys985Arg). This variant is present in population databases (rs751782015, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of DCTN1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1496799). 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 with a negative predictive value of 80%. 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.
GeneDx RCV004774600 SCV005386391 uncertain significance not provided 2024-01-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003968677 SCV004795113 uncertain significance DCTN1-related disorder 2024-02-13 no assertion criteria provided clinical testing The DCTN1 c.2954A>G variant is predicted to result in the amino acid substitution p.Lys985Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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