ClinVar Miner

Submissions for variant NM_003906.5(MCM3AP):c.5197G>T (p.Gly1733Cys)

gnomAD frequency: 0.00012  dbSNP: rs564457343
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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 RCV001944989 SCV002180784 uncertain significance not provided 2021-07-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 1733 of the MCM3AP protein (p.Gly1733Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs564457343, ExAC 0.1%). This variant has not been reported in the literature in individuals with MCM3AP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Revvity Omics, Revvity RCV003130599 SCV003810831 uncertain significance Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 2022-09-12 criteria provided, single submitter clinical testing

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