ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.473C>T (p.Ala158Val)

dbSNP: rs864622351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000203746 SCV000260255 uncertain significance Familial cancer of breast 2022-02-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 158 of the CHEK2 protein (p.Ala158Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 220029). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002336560 SCV002635946 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-11 criteria provided, single submitter clinical testing The p.A158V variant (also known as c.473C>T), located in coding exon 3 of the CHEK2 gene, results from a C to T substitution at nucleotide position 473. The alanine at codon 158 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000203746 SCV004217532 uncertain significance Familial cancer of breast 2023-09-28 criteria provided, single submitter clinical testing

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