ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1672-473T>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 RCV003448594 SCV004176115 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2023-06-14 criteria provided, single submitter clinical testing The c.1672-473T>G variant has not previously been reported in the literature or public variant repositories (ClinVar and LOVD). The c.1672-473T>G variant is observed in 62 alleles in population databases (0.004% MAF with 0 homozygote in gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.1672-473T>G variant is located in intron 11 of this 39-exon gene, and is slightly predicted to activate a cryptic splice donor site (Splice AI Donor Gain = 0.2045). However, there are no functional studies to support or refute this prediction. Based on available evidence this c.1672-473T>G intronic variant identified in ABCC8 is classified as a Variant of Uncertain Significance.

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