Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529313 | SCV000622547 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 164 of the ATM protein (p.Trp164Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 31871109). ClinVar contains an entry for this variant (Variation ID: 453548). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Color Diagnostics, |
RCV001182716 | SCV001348249 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-23 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001253019 | SCV001428527 | uncertain significance | Familial cancer of breast | 2018-08-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001182716 | SCV002640887 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-29 | criteria provided, single submitter | clinical testing | The p.W164C variant (also known as c.492G>T), located in coding exon 4 of the ATM gene, results from a G to T substitution at nucleotide position 492. The tryptophan at codon 164 is replaced by cysteine, an amino acid with highly dissimilar properties. In a study of 196 women with breast cancer and 185 unaffected controls from Cameroon and Uganda, this variant was observed in a breast cancer patient from Uganda (Adedokun B et al. Cancer Epidemiol Biomarkers Prev, 2020 02;29:359-367). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000529313 | SCV001454834 | uncertain significance | Ataxia-telangiectasia syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |