ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) (rs1554913069)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673056 SCV000798222 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2018-03-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000673056 SCV001361439 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2019-11-29 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.2835_2838delGAGA (p.Arg946LysfsX95) 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 (c.2992C>T (p.Arg998X), c.3574delG (p.Asp1192fsX16)). The variant was absent in 251486 control chromosomes (gnomAD). c.2835_2838delGAGA has been reported in the literature in individuals affected with Congenital Hyperinsulinism (CH)(Martinez_2016, Snider_2013). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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