ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.364-1G>A (rs1057521094)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429688 SCV000521047 likely pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing The c.364-1 G>A splice site variant in the GCK gene has been previously reported in a patient with incidental hyperglycemia (Lorini et al., 2009). This variant destroys the canonical splice acceptor site in intron 3, and is expected to cause abnormal gene splicing. However, the adjacent exon 4 is predicted to remain in frame. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Additionally, the variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be likely pathogenic.
Athena Diagnostics Inc RCV000429688 SCV000613424 pathogenic not provided 2021-04-29 criteria provided, single submitter clinical testing This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. This variant has not been reported in large, multi-ethnic general populations ( This variant has been identified in at least one individual with clinical features associated with this gene.

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