ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.298C>A (p.Leu100Met)

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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 RCV004924229 SCV005593918 uncertain significance not specified 2024-08-05 criteria provided, single submitter clinical testing The p.L100M variant (also known as c.298C>A), located in coding exon 1 of the GALNT12 gene, results from a C to A substitution at nucleotide position 298. The leucine at codon 100 is replaced by methionine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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