ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12422C>T (p.Ala4141Val)

gnomAD frequency: 0.00001  dbSNP: rs751754403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035169 SCV001198484 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2019-04-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DYNC1H1-related conditions. This variant is present in population databases (rs751754403, ExAC 0.002%). This sequence change replaces alanine with valine at codon 4141 of the DYNC1H1 protein (p.Ala4141Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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 RCV002276592 SCV002567570 uncertain significance not provided 2022-02-22 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; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093)

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