Total submissions: 1
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. |