ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.37G>A (p.Glu13Lys) (rs587779008)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220749 SCV000278214 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000629831 SCV000750787 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 13 of the MLH1 protein (p.Glu13Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs587779008, ExAC 0.002%). This variant has been observed in an individual affected with colorectal cancer (PMID: 28466842). ClinVar contains an entry for this variant (Variation ID: 192220). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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.
Counsyl RCV000662433 SCV000784889 uncertain significance Lynch syndrome II 2017-01-26 criteria provided, single submitter clinical testing
Color RCV000220749 SCV001342165 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-01 criteria provided, single submitter clinical testing
Pathway Genomics RCV000172808 SCV000223774 uncertain significance Lynch syndrome I 2014-10-30 no assertion criteria provided clinical testing

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