ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1733A>G (p.His578Arg)

dbSNP: rs1553413111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694465 SCV000822913 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-06-15 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 572941). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 578 of the MSH6 protein (p.His578Arg).
All of Us Research Program, National Institutes of Health RCV003999615 SCV004834396 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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