ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1013C>T (p.Pro338Leu)

dbSNP: rs1554298804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554093 SCV000625496 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-09-22 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 455633). This missense change has been observed in individual(s) with colorectal cancer (PMID: 31992580). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 338 of the PMS2 protein (p.Pro338Leu).

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