ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.657C>T (p.Asp219=)

gnomAD frequency: 0.00003  dbSNP: rs376586083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002117004 SCV002397452 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045831 SCV005030904 likely benign Maturity onset diabetes mellitus in young 2024-02-10 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 RCV005025699 SCV005656980 uncertain significance Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2024-01-05 criteria provided, single submitter clinical testing

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