ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.527-1G>C

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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 RCV002344408 SCV002641682 likely pathogenic Maturity onset diabetes mellitus in young 2019-04-29 criteria provided, single submitter clinical testing The c.527-1G>C intronic variant results from a G to C substitution one nucleotide upstream from coding exon 3 of the HNF1A 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 create a new alternate 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. As such, this alteration is classified as likely pathogenic.

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