ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.313A>G (p.Ile105Val)

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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 RCV004048446 SCV002607656 uncertain significance not specified 2024-09-01 criteria provided, single submitter clinical testing The p.I105V variant (also known as c.313A>G), located in coding exon 1 of the GALNT12 gene, results from an A to G substitution at nucleotide position 313. The isoleucine at codon 105 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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