ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)

dbSNP: rs1057516585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411424 SCV000485905 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388603 SCV001589660 pathogenic not provided 2020-10-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). This variant has been observed in individual(s) with familial hyperinsulinism (PMID: 20685672). It is also known as c.3111G>A, p.Trp1037X in the literature. ClinVar contains an entry for this variant (Variation ID: 370556). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1036*) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251468 SCV002520764 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 ( rs1057516585) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251469 SCV002520765 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 ( rs1057516585) in neonatal diabetes yet.

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