ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1055T>C (p.Leu352Ser)

dbSNP: rs1060503134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462472 SCV000552007 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-03-29 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. 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. ClinVar contains an entry for this variant (Variation ID: 411054). 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 leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 352 of the PMS2 protein (p.Leu352Ser).
Ambry Genetics RCV002411504 SCV002715551 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-01 criteria provided, single submitter clinical testing The p.L352S variant (also known as c.1055T>C), located in coding exon 10 of the PMS2 gene, results from a T to C substitution at nucleotide position 1055. The leucine at codon 352 is replaced by serine, an amino acid with 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.
GeneDx RCV003238762 SCV003936468 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 11574484)

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