ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)

gnomAD frequency: 0.00008  dbSNP: rs562680077
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Total submissions: 4
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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 RCV001030758 SCV001190088 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2019-08-21 criteria provided, single submitter clinical testing Only heterozygous state of c.4325A>T variant is present in the publicly available databases like 1000 Genomes, ExAC, gnomAD and dbSNP, at a low minor allele frequency (MAF <= 0.0002). However the variant is not present in our in-house exome database. This variant was also not reported earlier in OMIM, ClinVar and HGMD databases, in any affected individuals. In-silico pathogenicity prediction programs like Polyphen2, Mutation Taster2, CADD etc. predicted this variant as likely deleterious however there are contradictory predictions in few other programs. There are no existing functional studies to assess the pathogenicity of this variant. Due to lack of enough evidence the variant has been classified as uncertain significance. This patient also harbors a likely pathogenic variant in KCNJ11 gene, earlier reported by us (ClinVar Accession: VCV000694392.1).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245835 SCV002513327 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 (rs562680077 ) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245834 SCV002513328 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 ( rs562680077) in MODY yet.
Invitae RCV003736960 SCV004554383 likely benign not provided 2023-12-23 criteria provided, single submitter clinical testing

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