ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2530C>G (p.Pro844Ala)

dbSNP: rs1781490910
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210585 SCV001382080 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-06-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PMS2-related conditions. This sequence change replaces proline with alanine at codon 844 of the PMS2 protein (p.Pro844Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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