ClinVar Miner

Submissions for variant NM_006739.4(MCM5):c.413G>A (p.Arg138His)

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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 RCV002982258 SCV003288084 uncertain significance not provided 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 138 of the MCM5 protein (p.Arg138His). This variant is present in population databases (rs140426201, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MCM5-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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004935290 SCV005615929 uncertain significance not specified 2024-10-20 criteria provided, single submitter clinical testing The c.413G>A (p.R138H) alteration is located in exon 4 (coding exon 3) of the MCM5 gene. This alteration results from a G to A substitution at nucleotide position 413, causing the arginine (R) at amino acid position 138 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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