ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.133_152del (p.Ala45fs)

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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 RCV004246251 SCV003860912 uncertain significance not specified 2022-11-23 criteria provided, single submitter clinical testing The c.133_152del20 variant, located in coding exon 1 of the GALNT12 gene, results from a deletion of 20 nucleotides at nucleotide positions 133 to 152, causing a translational frameshift with a predicted alternate stop codon (p.A45Tfs*53). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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