ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003002828 SCV003299800 uncertain significance not provided 2021-09-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 673 of the ABCC8 protein (p.Asp673Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs777986828, ExAC 0.003%). This missense change has been observed in individual(s) with ABCC8-related conditions (PMID: 31595705). 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 not expected to disrupt ABCC8 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003002828 SCV004238852 uncertain significance not provided 2023-06-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005045150 SCV005676377 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-02-03 criteria provided, single submitter clinical testing

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