ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1044G>C (p.Gln348His)

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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 RCV002651465 SCV003524760 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-04-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 348 of the MSH2 protein (p.Gln348His). This variant is not present in population databases (gnomAD no frequency). 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 expected to disrupt MSH2 protein function. This missense change has been observed in individual(s) with ovarian cancer (PMID: 23047549).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140144 SCV003806835 uncertain significance Lynch syndrome 1 2022-10-28 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM2 moderated, PP3 supporting

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