ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.173G>C (p.Gly58Ala)

gnomAD frequency: 0.00001  dbSNP: rs1569170717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691477 SCV000819257 uncertain significance Familial cancer of breast 2021-12-08 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 570586). 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 glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 58 of the CHEK2 protein (p.Gly58Ala).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317343 SCV004021069 uncertain significance not specified 2023-06-22 criteria provided, single submitter clinical testing

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