ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.13A>G (p.Ser5Gly) (rs767350599)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688989 SCV000816622 uncertain significance Charcot-Marie-Tooth disease type 4 2018-03-09 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 5 of the PRX protein (p.Ser5Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs767350599, ExAC 0.008%). This variant has not been reported in the literature in individuals with PRX-related disease. 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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