ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val) (rs144714869)

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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 RCV000132112 SCV000187178 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-19 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000168184 SCV000218847 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1283 of the MSH6 protein (p.Ile1283Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs144714869, ExAC 0.01%). This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 142738). An algorithm developed specifically for the MSH6 gene suggests that this missense change is likely to be tolerated (PMID: 23621914). However, this prediction has not been confirmed by published functional studies and its 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 RCV000132112 SCV000690412 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-18 criteria provided, single submitter clinical testing
Mendelics RCV000708894 SCV000837923 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing

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