ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1332+3A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003228611 SCV003925219 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2022-07-11 criteria provided, single submitter clinical testing The c.1332+3A>G variant in the ABCC8 has previously been reported in homozygous state in an individual with congenital hyperinsulinism [PMID: 32027066] and has not been reported in the public variant repositories (ClinVar and LOVD). The c.1332+3A>G variant is absent from population databases (gnomAD v2.1.1 and v3.1.2,TOPMed Freeze 8, All of Us), suggesting it is not a common benign variant in the populations represented in those databases. The c.1332+3A>G variant in the ABCC8 is located in the splice region preceding exon 8 of this 39-exon gene. The in-silico algorithms predict this variant might affect mRNA splicing, however, there are no functional studies to support or refute this prediction. Based on available evidence the c.1332+3A>G variant identified in the ABCC8 is classified as a Variant of Uncertain Significance.

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