ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) (rs1564405163)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Iowa Renal Genetics Clinic,University of Iowa RCV000709930 SCV000924307 likely pathogenic Barakat syndrome criteria provided, single submitter research The Arg353Thr variant was identified within 1 Caucasian family. One individual has a clinical diagnosis of HDR (Barakat) syndrome and a second individual has a suspected history of HDR syndrome. This variant is ultra rare (PM2), predicted pathogenic (PP3), cosegregates with disease in 2 family members (PP1), is a novel missense change at an amino acid residue with a different missense change (Arg353Ser) which has been reported pathogenic (PM5), and the variant is in a gene that is highly specific for the family phenotype (PP4).
GenomeConnect, ClinGen RCV000709930 SCV000840279 not provided Barakat syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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