ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.289G>T (p.Asp97Tyr)

dbSNP: rs1395998044
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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 RCV001895608 SCV002148374 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-01-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PMS2-related conditions. 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 PMS2 protein function. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 97 of the PMS2 protein (p.Asp97Tyr).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361791 SCV005913327 uncertain significance Lynch syndrome 2022-04-20 criteria provided, single submitter clinical testing

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