Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002336074 | SCV002641847 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-22 | criteria provided, single submitter | clinical testing | The p.D1682H variant (also known as c.5044G>C), located in coding exon 33 of the ATM gene, results from a G to C substitution at nucleotide position 5044. The aspartic acid at codon 1682 is replaced by histidine, an amino acid with similar properties. 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. |
OMIM | RCV000003165 | SCV000023323 | pathogenic | T-cell prolymphocytic leukemia | 1997-09-01 | no assertion criteria provided | literature only |