ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1732C>T (p.His578Tyr) (rs768854566)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164895 SCV000215581 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-23 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Counsyl RCV000663227 SCV000786425 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV001037948 SCV001201386 uncertain significance Hereditary nonpolyposis colon cancer 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 578 of the MSH6 protein (p.His578Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 185467). 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.
Color RCV000164895 SCV001352796 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-09 criteria provided, single submitter clinical testing

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