ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.492A>C (p.Lys164Asn) (rs765014361)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558829 SCV000625170 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2020-09-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 164 of the MLH1 protein (p.Lys164Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs765014361, ExAC 0.003%). This variant has been observed in individual(s) with glioblastoma (PMID: 31160353). ClinVar contains an entry for this variant (Variation ID: 455440). 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 C). 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. 5
Color Health, Inc RCV000580253 SCV000684836 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-17 criteria provided, single submitter clinical testing
Cure Brain Cancer Foundation Neuro-Oncology Group, Adult Cancer Program,University of New South Wales RCV000580253 SCV000902257 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-01 no assertion criteria provided research

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