ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.1154G>T (p.Gly385Val)

gnomAD frequency: 0.00019  dbSNP: rs200959196
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664124 SCV000787576 uncertain significance Monogenic diabetes 2017-08-01 criteria provided, single submitter research ACMG Criteria:BP4 (9 predictors)
Labcorp Genetics (formerly Invitae), Labcorp RCV001861734 SCV002308084 uncertain significance not provided 2022-03-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 230 of the GLIS3 protein (p.Gly230Val). This variant is present in population databases (rs200959196, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GLIS3-related conditions. ClinVar contains an entry for this variant (Variation ID: 549531). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002485513 SCV002782721 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 2021-07-07 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002485513 SCV003928194 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 rs200959196, yet.
Clinical Genomics Laboratory, Washington University in St. Louis RCV002485513 SCV005685224 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 2024-05-16 criteria provided, single submitter clinical testing The GLIS3 c.1154G>T (p.Gly385Val) was identified. This variant, to our knowledge, has not been reported in the medical literature. This variant has been reported in the ClinVar database as a variant of uncertain significance by two submitters (ClinVar ID: 549531). Computational predictors suggest that the variant does not impact GLIS3 function. Due to limited information, and based on the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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