Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019423 | SCV001180780 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-12-24 | criteria provided, single submitter | clinical testing | The p.H1083Y variant (also known as c.3247C>T), located in coding exon 21 of the ATM gene, results from a C to T substitution at nucleotide position 3247. The histidine at codon 1083 is replaced by tyrosine, an amino acid with similar properties. In a study of 7051 Japanese patients and 11241 controls, this variant was detected only in the control population with a carrier frequency of 0.0001 (Momozawa Y et al. Nat Commun. 2018 10;9:4083). 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. |