ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2043G>T (p.Gln681His)

dbSNP: rs876658953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230129 SCV000551941 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-10-23 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 411023). This missense change has been observed in individual(s) with PMS2-related conditions (PMID: 31159747). The frequency data for this variant in the population databases (gnomAD) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 681 of the PMS2 protein (p.Gln681His).
GeneKor MSA RCV000708731 SCV000822127 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing

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