ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.96C>G (p.Asn32Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463382 SCV004206560 pathogenic Type 2 diabetes mellitus 2023-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003553964 SCV004295396 pathogenic not provided 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 32 of the ABCC8 protein (p.Asn32Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital hyperinsulinism (PMID: 23275527, 28123437, 34055426). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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