ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.312C>T (p.Ala104=)

dbSNP: rs535722487
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518561 SCV000614428 likely benign not specified 2017-05-09 criteria provided, single submitter clinical testing
GeneDx RCV001560945 SCV001783453 likely benign not provided 2018-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323879 SCV002607702 likely benign Maturity onset diabetes mellitus in young 2019-11-24 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 RCV002506256 SCV002802412 likely benign Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus 2022-01-25 criteria provided, single submitter clinical testing

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