ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.851C>G (p.Ala284Gly)

gnomAD frequency: 0.02672  dbSNP: rs185325359
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Total submissions: 8
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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 RCV000445455 SCV000537106 likely benign Monogenic diabetes 2015-10-27 criteria provided, single submitter research ACMG Criteria: BS1, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV000462572 SCV000554400 benign Atrioventricular septal defect 5 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001668238 SCV001885150 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465524 SCV002605324 benign Neonatal insulin-dependent diabetes mellitus criteria provided, single submitter research Potent mutations in GATA6 gene are associated with neonatal diabetes, decreased insulin production due to pancreatic aplasia or hypoplasia. Also associated with isolated cardiac abnormalities in children, like atrial septal defects.However no sufficient evidence is found to ascertain the role of this particular variant rs185325359 yet.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001668238 SCV003799613 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117122 SCV005204624 benign not specified 2024-06-19 criteria provided, single submitter clinical testing Variant summary: GATA6 c.851C>G (p.Ala284Gly) results in a non-conservative amino acid change located in the GATA-type transcription activator, N-terminal domain (IPR008013) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0056 in 1228436 control chromosomes in the gnomAD database, including 321 homozygotes. The observed variant frequency is approximately 8929.73 fold of the estimated maximal expected allele frequency for a pathogenic variant in GATA6 causing Pancreatic Agenesis and Congenital Heart Defects phenotype (6.3e-07). To our knowledge, no occurrence of c.851C>G in individuals affected with Pancreatic Agenesis and Congenital Heart Defects and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 129135). Based on the evidence outlined above, the variant was classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV001668238 SCV005217175 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117122 SCV000151283 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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