ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) (rs72559715)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503504 SCV000592979 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-07-21 criteria provided, single submitter clinical testing
Counsyl RCV000503504 SCV000797781 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2018-02-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710389 SCV000840599 pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763232 SCV000893865 likely pathogenic Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000710389 SCV001582811 pathogenic not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1478 of the ABCC8 protein (p.Gly1478Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal dominant congenital hyperinsulinism and autosomal dominant ABCC8-related early onset diabetes (PMID: 19475716, 30977832, 30098243). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 434045). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCC8 protein function. For these reasons, this variant has been classified as Pathogenic.

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