Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002390084 | SCV002697023 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-30 | criteria provided, single submitter | clinical testing | The p.T491M variant (also known as c.1472C>T), located in coding exon 9 of the GALNT12 gene, results from a C to T substitution at nucleotide position 1472. The threonine at codon 491 is replaced by methionine, 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. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
OMIM | RCV000001333 | SCV000021483 | risk factor | Colorectal cancer, susceptibility to, 1 | 2009-08-04 | no assertion criteria provided | literature only |