ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)

dbSNP: rs1554904565
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670291 SCV000795126 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2017-10-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245559 SCV002513325 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 ( rs1554904565) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245560 SCV002513326 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 ( rs1554904565 ) in neonatal diabetes yet.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689844 SCV005184701 uncertain significance not specified 2024-05-14 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.4349T>C (p.Leu1450Pro) results in a non-conservative amino acid change located in the ABC transporter-like, ATP-binding domain (IPR003439) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 227022 control chromosomes. c.4349T>C has been reported in the literature in at-least two individuals affected with Familial Hyperinsulinism (Fernandez-Marmiesse_2006, Martinez_2016). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 16429405, 27188453). ClinVar contains an entry for this variant (Variation ID: 554619). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005046886 SCV005676660 likely pathogenic Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-05-22 criteria provided, single submitter clinical testing

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