ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)

gnomAD frequency: 0.00019  dbSNP: rs565996783
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000928907 SCV001074529 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267042 SCV002522367 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 (rs565996783) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002267043 SCV002522368 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 (rs565996783) in neonatal diabetes yet.
Ambry Genetics RCV003307705 SCV003997095 likely benign Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001274303 SCV001458275 uncertain significance Hereditary hyperinsulinism 2020-01-24 no assertion criteria provided clinical testing

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