ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1472C>T (p.Thr491Met)

dbSNP: rs267606840
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Total submissions: 2
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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

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