ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1844T>C (p.Val615Ala)

dbSNP: rs1060503112
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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 RCV000458503 SCV000551929 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-07-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 615 of the PMS2 protein (p.Val615Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 411018). 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 not 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.
Baylor Genetics RCV003470479 SCV004207784 uncertain significance Lynch syndrome 4 2023-07-21 criteria provided, single submitter clinical testing

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