ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.1645C>T (p.Gln549Ter)

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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 RCV004058158 SCV002704618 uncertain significance not specified 2020-09-17 criteria provided, single submitter clinical testing The p.Q549* variant (also known as c.1645C>T), located in coding exon 10 of the GALNT12 gene, results from a C to T substitution at nucleotide position 1645. This changes the amino acid from a glutamine to a stop codon within coding exon 10. This alteration occurs at the 3' terminus of the GALNT12 gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 32 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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