ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.911T>A (p.Val304Asp)

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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 RCV004517715 SCV005028932 uncertain significance not specified 2023-11-23 criteria provided, single submitter clinical testing The p.V304D variant (also known as c.911T>A), located in coding exon 4 of the GALNT12 gene, results from a T to A substitution at nucleotide position 911. The valine at codon 304 is replaced by aspartic acid, an amino acid with highly 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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