ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp)

gnomAD frequency: 0.00001  dbSNP: rs200224597
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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 RCV001048187 SCV001212178 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2024-02-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 4638 of the DYNC1H1 protein (p.Arg4638Trp). This variant is present in population databases (rs200224597, gnomAD 0.01%). This missense change has been observed in individual(s) with hereditary sensory neuropathy (PMID: 26100331). ClinVar contains an entry for this variant (Variation ID: 694873). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DYNC1H1 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.
Genesis Genome Database RCV000856995 SCV000999563 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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