ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.702C>T (p.Asn234=)

gnomAD frequency: 0.00002  dbSNP: rs758289249
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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 RCV002086063 SCV002385015 likely benign not provided 2023-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002361490 SCV002666986 likely benign Inborn genetic diseases 2019-10-23 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.
Fulgent Genetics, Fulgent Genetics RCV002498310 SCV002810205 likely benign Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2021-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543771 SCV004766691 likely benign ABCC8-related disorder 2019-07-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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