ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)

gnomAD frequency: 0.00001  dbSNP: rs574487898
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000926623 SCV001072186 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254181 SCV002524071 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 ( rs574487898) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254182 SCV002524072 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 ( rs574487898) in neonatal diabetes yet.
PreventionGenetics, part of Exact Sciences RCV003411894 SCV004106275 uncertain significance ABCC8-related condition 2022-09-23 criteria provided, single submitter clinical testing The ABCC8 c.487G>A variant is predicted to result in the amino acid substitution p.Gly163Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.16% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-17485077-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001276287 SCV001462396 uncertain significance Hereditary hyperinsulinism 2020-01-24 no assertion criteria provided clinical testing

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