ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.437A>T (p.Asn146Ile)

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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 RCV004050601 SCV002631150 uncertain significance not specified 2022-02-18 criteria provided, single submitter clinical testing The p.N146I variant (also known as c.437A>T), located in coding exon 2 of the GALNT12 gene, results from an A to T substitution at nucleotide position 437. The asparagine at codon 146 is replaced by isoleucine, an amino acid with dissimilar 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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