ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=)

dbSNP: rs373478721
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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 RCV000978173 SCV001126099 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245801 SCV002513435 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 (rs373478721) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245802 SCV002513436 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 (rs373478721 ) in neonatal diabetes yet.
Ambry Genetics RCV003279174 SCV004009394 likely benign Inborn genetic diseases 2023-03-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. RCV001832256 SCV002077494 likely benign Hereditary hyperinsulinism 2020-09-14 no assertion criteria provided clinical testing

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