ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)

dbSNP: rs878854041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226952 SCV000285096 uncertain significance Lynch syndrome 2015-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002417997 SCV002721850 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-02 criteria provided, single submitter clinical testing The p.I678L variant (also known as c.2032A>C), located in coding exon 12 of the PMS2 gene, results from an A to C substitution at nucleotide position 2032. The isoleucine at codon 678 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509327 SCV002819531 uncertain significance not specified 2022-12-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV002417997 SCV004359569 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-28 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with leucine at codon 678 of the PMS2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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