ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1332+17G>C

dbSNP: rs193922395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237411 SCV000051895 likely benign not specified 2024-12-16 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.1332+17G>C alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing (TrAP). However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251430 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1332+17G>C in individuals affected with Congenital Hyperinsulinism and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 35603). Based on the evidence outlined above, the variant was classified as likely benign.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251927 SCV002522432 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 (rs193922395) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251928 SCV002522437 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 (rs193922395) in neonatal diabetes yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV003727607 SCV004523996 likely benign not provided 2023-09-17 criteria provided, single submitter clinical testing

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