ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.443C>T (p.Ala148Val)

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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 RCV004050708 SCV002633181 uncertain significance not specified 2022-10-29 criteria provided, single submitter clinical testing The p.A148V variant (also known as c.443C>T), located in coding exon 2 of the GALNT12 gene, results from a C to T substitution at nucleotide position 443. The alanine at codon 148 is replaced by valine, 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.
Baylor Genetics RCV004572282 SCV005058856 uncertain significance Colorectal cancer, susceptibility to, 1 2023-11-02 criteria provided, single submitter clinical testing

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