Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000698732 | SCV000827414 | uncertain significance | Ataxia-telangiectasia syndrome | 2022-02-20 | criteria provided, single submitter | clinical testing | 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: 576270). This missense change has been observed in individual(s) with breast cancer (PMID: 30287823). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 3009 of the ATM protein (p.Val3009Gly). 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 | RCV004026457 | SCV005021133 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | The p.V3009G variant (also known as c.9026T>G), located in coding exon 62 of the ATM gene, results from a T to G substitution at nucleotide position 9026. The valine at codon 3009 is replaced by glycine, an amino acid with dissimilar properties. This alteration was observed in 1/7,051 unselected female breast cancer patients and was not observed in 11,241 female controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 Oct;9:4083). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |