ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2391-6C>T

gnomAD frequency: 0.00001  dbSNP: rs556416038
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000981142 SCV001129109 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251545 SCV002522205 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 (rs556416038) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251544 SCV002522206 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 (rs556416038) in MODY yet.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003396568 SCV004122726 uncertain significance not specified 2023-10-11 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.2391-6C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 7.6e-05 in 251448 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in ABCC8 causing Familial Hyperinsulinism (7.6e-05 vs 0.0034), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2391-6C>T in individuals affected with Familial Hyperinsulinism and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. One submitter classified the variant as likely benign, and one submitter classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001274298 SCV001458270 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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