ClinVar Miner

Submissions for variant NM_024642.5(GALNT12):c.732-2A>G

dbSNP: rs1588449802
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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 RCV004030882 SCV001188621 uncertain significance not specified 2018-11-12 criteria provided, single submitter clinical testing The c.732-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 4 in the GALNT12 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. However, loss of function of GALNT12 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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