ClinVar Miner

Submissions for variant NM_001287174.2(ABCC8):c.2222+1G>T (rs1554923999)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668105 SCV000792656 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2017-07-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710376 SCV000840586 pathogenic not provided 2017-08-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780810 SCV000918372 likely pathogenic Familial hyperinsulinism 2018-10-29 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.2222+1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 5 splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246020 control chromosomes (gnomAD). c.2222+1G>T has been reported in the literature in individuals affected with Congenital Hyperinsulinism (Snider_2013, Warncke_2016). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely pathogenic/pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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