ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.266T>C (p.Val89Ala) (rs876659747)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215101 SCV000276538 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-27 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000227027 SCV000284157 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-08 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 89 of the MSH2 protein (p.Val89Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 28580595). ClinVar contains an entry for this variant (Variation ID: 232406). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000215101 SCV000906757 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-01 criteria provided, single submitter clinical testing
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030705 SCV001193627 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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