ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.22G>A (p.Gly8Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041805 SCV001205445 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 8 of the DYNC1H1 protein (p.Gly8Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs774412818, ExAC 0.01%). This variant has not been reported in the literature in individuals with DYNC1H1-related conditions. 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.

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