ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)

dbSNP: rs193922401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029262 SCV000051908 likely pathogenic Neonatal diabetes mellitus 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Genetic Services Laboratory,University of Chicago RCV001818180 SCV002067352 pathogenic not provided 2019-07-16 criteria provided, single submitter clinical testing DNA sequence analysis of the ABCC8 gene demonstrated a sequence change, c.4136G>T, in exon 34 that results in an amino acid change, p.Arg1379Leu. The p.Arg1379Leu change has been identified in patients with transient neonatal diabetes and family members of these individuals who were diagnosed with diabetes in adulthood (PMID: 18025464). Additionally, several other mutations affecting the same amino acid residue (p.Arg1379Cys, p.Arg1379His, p.Arg1379Pro, p.Arg1379Ser) have been reported in patients with neonatal diabetes as well as adult onset diabetes (PMIDs: 18025464, 16885549, 24622368, 25555642). The p.Arg1379Leu change is absent from large population databases such as ExAC and gnomAD. The p.Arg1379Leu change affects a highly conserved amino acid residue located in a domain of the SUR1 protein that is known to be functional. The p.Arg1379Leu substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL).

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