ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.992T>C (p.Met331Thr)

dbSNP: rs1555915352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582202 SCV000689752 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
Invitae RCV003500579 SCV004254025 uncertain significance Familial cancer of breast 2023-06-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 491659). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 331 of the CHEK2 protein (p.Met331Thr).

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