ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1448G>A (p.Gly483Asp)

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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 RCV004334240 SCV004053130 uncertain significance not specified 2023-07-09 criteria provided, single submitter clinical testing The p.G483D variant (also known as c.1448G>A), located in coding exon 8 of the GALNT12 gene, results from a G to A substitution at nucleotide position 1448. The glycine at codon 483 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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