ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln)

gnomAD frequency: 0.00026  dbSNP: rs374943049
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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 RCV000906853 SCV001051517 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001166834 SCV001329252 likely benign Neonatal diabetes mellitus with congenital hypothyroidism 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465809 SCV002754509 benign Transitory neonatal diabetes mellitus criteria provided, single submitter research Potent mutations in GLIS3 predisposes to neonatal diabetes mellitus with an extra pancreatic manifestation of hypothyroidism. It also predisposes to early onset diabetes in adults.However no sufficient evidence is found to ascertain the role of this particular variant rs374943049, yet.
New York Genome Center RCV001166834 SCV002764430 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 2021-11-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000906853 SCV005225318 likely benign not provided criteria provided, single submitter not provided

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