Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020766 | SCV001182283 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-12-26 | criteria provided, single submitter | clinical testing | The p.M1210I variant (also known as c.3630G>T), located in coding exon 24 of the ATM gene, results from a G to T substitution at nucleotide position 3630. The methionine at codon 1210 is replaced by isoleucine, an amino acid with highly similar properties. A similar alteration resulting in the same amino acid change c.3630G>A (p.M1210I) has been detected in 1/4112 breast cancer patients and 0/2399 healthy control individuals across numerous studies (Sommer SS et al. Cancer Genet. Cytogenet., 2002 Apr;134:25-32; Tavtigian SV et al. Am. J. Hum. Genet. 2009 Oct;85:427-46). This amino acid position is well 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. |