ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.926C>T (p.Thr309Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004245089 SCV003856157 uncertain significance not specified 2022-11-07 criteria provided, single submitter clinical testing The p.T309I variant (also known as c.926C>T), located in coding exon 5 of the GALNT12 gene, results from a C to T substitution at nucleotide position 926. The threonine at codon 309 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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