ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.689dup (p.His230fs)

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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 RCV004052935 SCV002661420 uncertain significance not specified 2022-09-11 criteria provided, single submitter clinical testing The c.689dupA variant, located in coding exon 3 of the GALNT12 gene, results from a duplication of A at nucleotide position 689, causing a translational frameshift with a predicted alternate stop codon (p.H230Qfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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