ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln)

gnomAD frequency: 0.00001  dbSNP: rs760957660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503558 SCV000594456 uncertain significance not specified 2017-03-20 criteria provided, single submitter clinical testing
Invitae RCV001055761 SCV001220166 likely benign Charcot-Marie-Tooth disease axonal type 2O 2022-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431457 SCV002727250 uncertain significance Inborn genetic diseases 2019-12-20 criteria provided, single submitter clinical testing The p.R3611Q variant (also known as c.10832G>A), located in coding exon 57 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 10832. The arginine at codon 3611 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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