ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2374G>A (p.Asp792Asn) (rs587781265)

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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 RCV000128875 SCV000172732 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-30 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000560365 SCV000625612 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-08-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 792 of the PMS2 protein (p.Asp792Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. The frequency data for this variant in the population databases (rs587781265, ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has not been reported in the literature in individuals with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 140758). This variant has been reported to have conflicting or insufficient data to determine the effect on PMS2 protein function (PMID:28494185). 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.

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