ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1417G>A (p.Glu473Lys) (rs786203427)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166727 SCV000217538 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-07 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000630121 SCV000751077 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 473 of the PMS2 protein (p.Glu473Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 26976419). ClinVar contains an entry for this variant (Variation ID: 187042). An experimental study has shown that this missense change affects neither Zn2+ binding nor the mismatch repair efficiency of the homologous MutL enzyme of Bacillus subtilis (PMID: 20603082). 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.
Color RCV000166727 SCV000912094 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-18 criteria provided, single submitter clinical testing

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