ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.644A>G (p.Asn215Ser) (rs267607775)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000627731 SCV000259718 uncertain significance Hereditary nonpolyposis colon cancer 2018-10-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 215 of the MLH1 protein (p.Asn215Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs267607775, ExAC 0.01%). This variant has been reported in an individual affected with Lynch syndrome (PMID: 18561205). ClinVar contains an entry for this variant (Variation ID: 90301). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508449 SCV000601406 uncertain significance not specified 2017-07-06 criteria provided, single submitter clinical testing
Mendelics RCV000075791 SCV000838000 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000771523 SCV000904054 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-13 criteria provided, single submitter clinical testing

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