ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.607G>A (p.Asp203Asn)

dbSNP: rs1601806038
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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 RCV000820980 SCV000961719 uncertain significance Familial cancer of breast 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 203 of the CHEK2 protein (p.Asp203Asn). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 663160). 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).
Ambry Genetics RCV002352454 SCV002654740 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-31 criteria provided, single submitter clinical testing The p.D203N variant (also known as c.607G>A), located in coding exon 4 of the CHEK2 gene, results from a G to A substitution at nucleotide position 607. The aspartic acid at codon 203 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV000820980 SCV004217599 uncertain significance Familial cancer of breast 2023-08-15 criteria provided, single submitter clinical testing

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