ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)

gnomAD frequency: 0.00004  dbSNP: rs67767715
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666053 SCV000790287 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2017-03-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000666053 SCV000915515 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2018-11-15 criteria provided, single submitter clinical testing The ABCC8 c.4008G>C (p.Lys1336Asn) missense variant has been reported in one study in which it is found in one individual affected with congenital hyperinsulinism in a compound heterozygous state with a known pathogenic intronic variant (Henwood et al. 2005). The unaffected parents were each heterozygous for one of the variants, with the p.Lys1336Asn variant being present in the father (Henwood et al. 2005). The p.Lys1336Asn variant is absent from 100 control alleles and is reported at a frequency of 0.000072 in the European (non-Finnish) population of the Genome Aggregation Database. The p.Lys1336Asn variant did not affect surface expression or channel response to MgADP in COSm6 cells (Yan et al. 2007). Based on the limited evidence, the p.Lys1336Asn variant is classified as a variant of unknown significance but suspicious for pathogenicity for hyperinsulinism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Illumina Laboratory Services, Illumina RCV001104230 SCV001261080 uncertain significance Permanent neonatal diabetes mellitus 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago RCV001816668 SCV002072035 likely pathogenic not provided 2017-09-08 criteria provided, single submitter clinical testing

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