ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr)

dbSNP: rs1569159072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692738 SCV000820578 uncertain significance Familial cancer of breast 2021-07-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 571561). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with tyrosine at codon 111 of the CHEK2 protein (p.Asp111Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. 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.
Mendelics RCV000692738 SCV000839497 uncertain significance Familial cancer of breast 2018-07-02 criteria provided, single submitter clinical testing

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