ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)

gnomAD frequency: 0.00001  dbSNP: rs772094360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Madras Diabetes Research Foundation RCV002052025 SCV002318412 likely pathogenic Neonatal diabetes mellitus criteria provided, single submitter clinical testing
GeneDx RCV003332375 SCV004039670 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27681997, 32418263, 32893419)
PreventionGenetics, part of Exact Sciences RCV004538754 SCV004724462 likely pathogenic ABCC8-related disorder 2023-12-19 no assertion criteria provided clinical testing The ABCC8 c.3788C>T variant is predicted to result in the amino acid substitution p.Ala1263Val. This variant has been reported in the compound heterozygous and homozygous state in individuals with neonatal diabetes mellitus (Hashimoto et al 2017. PubMed ID: 27681997; Gopi S et al 2020. PubMed ID: 32893419). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. A different substitution affecting the same amino acid (p.Ala1263Glu) has been reported in the homozygous state in two individuals with neonatal diabetes mellitus (Table S1, Flanagan et al. 2014. PubMed ID: 24411943). This variant is interpreted as likely pathogenic.

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