ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly)

dbSNP: rs1595623556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253418 SCV001429119 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2018-05-29 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP2
Labcorp Genetics (formerly Invitae), Labcorp RCV001253418 SCV004435867 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 3111 of the DYNC1H1 protein (p.Ser3111Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 694850). 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 DYNC1H1 protein function with a negative predictive value of 95%. 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.
Genesis Genome Database RCV000856955 SCV000999519 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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