ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12868G>A (p.Gly4290Arg)

gnomAD frequency: 0.00004  dbSNP: rs748643448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226667 SCV001398988 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV002286826 SCV002577201 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing Observed with a second DYNC1H1 varaint in a patient with amyotrophic lateral sclerosis (Tripolszki et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093, 31475037)

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