ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.948C>A (p.His316Gln)

dbSNP: rs1219573982
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987840 SCV001137310 uncertain significance Lynch syndrome 4 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001298863 SCV001487934 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 316 of the PMS2 protein (p.His316Gln). 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: 802296). 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.
Ambry Genetics RCV003160114 SCV003883772 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-05 criteria provided, single submitter clinical testing The p.H316Q variant (also known as c.948C>A), located in coding exon 9 of the PMS2 gene, results from a C to A substitution at nucleotide position 948. The histidine at codon 316 is replaced by glutamine, 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.
Baylor Genetics RCV000987840 SCV004205446 uncertain significance Lynch syndrome 4 2023-09-13 criteria provided, single submitter clinical testing

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