ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1020-10C>A (rs193922257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029832 SCV000052487 uncertain significance not specified 2019-01-25 criteria provided, single submitter clinical testing Variant summary: GCK c.1020-10C>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing (ACMG PP3): Two predict the variant abolishes the canonical 3' acceptor site. Three predict the variant weakens the canonical 3' acceptor site. Five predict the variant creates a novel 3' acceptor site in intron 8. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 187084 control chromosomes (gnomAD, ACMG PM2). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1020-10C>A in individuals affected with Maturity Onset Diabetes of the Young 2/Neonatal Diabetes Mellitus and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.
Athena Diagnostics Inc RCV000518539 SCV000613392 likely pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing

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