Submissions for variant NM_003906.5(MCM3AP):c.3452G>A (p.Arg1151Gln)

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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	RCV002601915	SCV002957014	uncertain significance	not provided	2022-03-14	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with MCM3AP-related conditions. This variant is present in population databases (rs771330017, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1151 of the MCM3AP protein (p.Arg1151Gln).
Revvity Omics, Revvity	RCV003130727	SCV003810829	uncertain significance	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	2021-11-25	criteria provided, single submitter	clinical testing

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