ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)

gnomAD frequency: 0.00001  dbSNP: rs747402972
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001428015 SCV001630707 likely benign not provided 2023-06-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245914 SCV002512164 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 ( rs747402972 ) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245913 SCV002512165 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 ( rs747402972 ) in MODY yet.
Natera, Inc. RCV001277858 SCV001464837 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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