ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)

dbSNP: rs1954765607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV001255854 SCV001432259 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2020-06-06 criteria provided, single submitter clinical testing The c.2557G>A variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is not present in our in-house exome database. The variant was not reported to ClinVar, Human Genome Mutation Database database (HGMD) and OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like SIFT, Polyphen2, MutationTaster2, CADD etc. predicted this variant to be likely deleterious. The variant occurs in the early exonic positions (first nucleotide of exon 22) and can potentially affect the splicing as predicted also by online program Human Splicing Finder version 3.1 (HSF3.1). The variants meets the criteria of ACMG guidelines to be classified as 'Pathogenic'.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251564 SCV002522149 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs1954765607) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251762 SCV002522150 uncertain significance Transitory neonatal diabetes mellitus criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs1954765607) in neonatal diabetes yet.

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