ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.554C>T (p.Ser185Phe) (rs878853819)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229255 SCV000284172 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-06-05 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 185 of the MSH2 protein (p.Ser185Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 237399). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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.
Ambry Genetics RCV000566564 SCV000669758 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-06 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000566564 SCV000685098 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759114 SCV000888221 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing

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