ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.991T>G (p.Cys331Gly)

dbSNP: rs1554298831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568044 SCV000663547 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-20 criteria provided, single submitter clinical testing The p.C331G variant (also known as c.991T>G), located in coding exon 10 of the PMS2 gene, results from a T to G substitution at nucleotide position 991. The cysteine at codon 331 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002526795 SCV003323907 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-09-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 480363). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 331 of the PMS2 protein (p.Cys331Gly).

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