ClinVar Miner

Submissions for variant NM_004526.4(MCM2):c.2473C>T (p.Arg825Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004219760 SCV003728705 uncertain significance not specified 2021-12-13 criteria provided, single submitter clinical testing The c.2473C>T (p.R825W) alteration is located in exon 15 (coding exon 15) of the MCM2 gene. This alteration results from a C to T substitution at nucleotide position 2473, causing the arginine (R) at amino acid position 825 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003561163 SCV004275778 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 825 of the MCM2 protein (p.Arg825Trp). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MCM2 protein function. ClinVar contains an entry for this variant (Variation ID: 2384899). This variant has not been reported in the literature in individuals affected with MCM2-related conditions. This variant is present in population databases (rs771601773, gnomAD 0.008%).

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