ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)

gnomAD frequency: 0.00001  dbSNP: rs1554933168
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665950 SCV000790165 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2017-03-16 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267001 SCV002522397 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 (rs1554933168) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267002 SCV002522398 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 (rs1554933168) in neonatal diabetes yet.
Baylor Genetics RCV003459574 SCV004204563 likely pathogenic Type 2 diabetes mellitus 2023-03-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702280 SCV005204327 uncertain significance not specified 2024-06-13 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.1508T>C (p.Leu503Pro) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) 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 250956 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1508T>C has been reported in the literature in individuals affected with Congenital Hyperinsulinism in both the monoallelic and biallelic state (e.g. Snider_2013, Bellann-Chantelot_2010, Sandal_2009, Suchi_2006, Nvoa-Medina_2021). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (Yan_2007). The following publications have been ascertained in the context of this evaluation (PMID: 20685672, 34253504, 19475716, 23275527, 16357843, 17575084). ClinVar contains an entry for this variant (Variation ID: 551001). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005049635 SCV005676400 likely pathogenic Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-06-18 criteria provided, single submitter clinical testing

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