ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.793G>T (p.Val265Phe)

gnomAD frequency: 0.00087  dbSNP: rs143192828
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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 RCV000890775 SCV001034548 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174473 SCV001337612 uncertain significance Monogenic diabetes 2017-11-10 criteria provided, single submitter research ACMG criteria: PP3 (4 predictors), BP4 (6 predictors)=VUS
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003232992 SCV003928196 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 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 rs143192828, yet.

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