ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) (rs797045213)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192482 SCV000246304 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2015-06-16 criteria provided, single submitter clinical testing
Counsyl RCV000192482 SCV000486836 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-08-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517846 SCV000612223 pathogenic not provided 2017-06-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000192482 SCV001361175 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2019-06-03 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.563A>G (p.Asn188Ser) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 235752 control chromosomes (gnomAD). c.563A>G has been reported in the literature in multiple individuals affected with Congenital or Familial Hyperinsulinism (Shyng_1998, Nestorowicz_1998, Christesen_2001, Del Roio Liberatore_2015). These data indicate that the variant is very likely to be associated with disease. A functional study, Shyng_2008, found the variant to form channels that were indistinguishable from the wild-type in terms of regulation of the channel by nucleotides and diazoxide. However, the authors do indicate the variant could be playing a role in transcription, translation, trafficking or stability of protein, where were not assessed. Three ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as likely pathogenic/pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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