ClinVar Miner

Submissions for variant NM_003906.5(MCM3AP):c.5276C>T (p.Pro1759Leu)

gnomAD frequency: 0.00021  dbSNP: rs201207310
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001911858 SCV002130081 uncertain significance not provided 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1759 of the MCM3AP protein (p.Pro1759Leu). This variant is present in population databases (rs201207310, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MCM3AP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1365235). 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: "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.
Ambry Genetics RCV002550972 SCV003710883 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.5276C>T (p.P1759L) alteration is located in exon 24 (coding exon 24) of the MCM3AP gene. This alteration results from a C to T substitution at nucleotide position 5276, causing the proline (P) at amino acid position 1759 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001911858 SCV004225561 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing PM2

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