ClinVar Miner

Submissions for variant NM_000207.3(INS):c.125T>C (p.Val42Ala)

dbSNP: rs886037863
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000240176 SCV002580637 likely pathogenic Maturity-onset diabetes of the young type 10 2022-01-20 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000240176 SCV004174198 uncertain significance Maturity-onset diabetes of the young type 10 criteria provided, single submitter research Potent mutations in the INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, mutations in this gene can cause beta cell destruction.However, more evidence is required to confer the association of this particular variant rs886037863 with Maturity onset diabetes of the young (MODY).
Medical Genetics, Meyer Children Hospital RCV000240176 SCV000298180 likely pathogenic Maturity-onset diabetes of the young type 10 no assertion criteria provided clinical testing

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