ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)

dbSNP: rs2133400786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420806 SCV001623180 likely pathogenic Familial hyperinsulinism 2021-04-17 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.4288delC (p.Leu1430SerfsX30) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 165416 control chromosomes. c.4288delC has been reported in the literature as a de-novo variant in at least one individual affected with diazoxide unresponsive Congenital Hyperinsulinism (example, Banerjee_2011). The parental origin of this de-novo variant was however not specified. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV004570997 SCV005058790 pathogenic Type 2 diabetes mellitus 2024-02-27 criteria provided, single submitter clinical testing

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