ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.134C>A (p.Ala45Asp)

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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 RCV004517663 SCV005028135 uncertain significance not specified 2024-02-02 criteria provided, single submitter clinical testing The p.A45D variant (also known as c.134C>A), located in coding exon 1 of the GALNT12 gene, results from a C to A substitution at nucleotide position 134. The alanine at codon 45 is replaced by aspartic acid, an amino acid with dissimilar 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 alteration remains unclear.

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