ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.49G>T (p.Val17Phe) (rs63750966)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985812 SCV001134366 uncertain significance not provided 2019-02-04 criteria provided, single submitter clinical testing
Invitae RCV001212396 SCV001383979 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 17 of the MSH2 protein (p.Val17Phe). The valine residue is weakly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with clinical features of Lynch syndrome (PMID: 12132870). ClinVar contains an entry for this variant (Variation ID: 91113). An algorithm developed specifically for the MSH2 gene suggests that this missense change is likely to be tolerated (PMID: 18383312). However, this prediction has not been confirmed by published functional studies and its 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.

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