ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.314del (p.Ile105fs)

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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 RCV004048468 SCV002610526 uncertain significance not specified 2022-06-09 criteria provided, single submitter clinical testing The c.314delT variant, located in coding exon 1 of the GALNT12 gene, results from a deletion of one nucleotide at nucleotide position 314, causing a translational frameshift with a predicted alternate stop codon (p.I105Tfs*38). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of GALNT1 has not been clearly established as a mechanism of disease and the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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