ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.359C>T (p.Thr120Met)

gnomAD frequency: 0.00003  dbSNP: rs750735308
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488087 SCV000574835 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375342 SCV001572060 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PP3_Supporting, BS2_Strong
Fulgent Genetics, Fulgent Genetics RCV002496880 SCV002791348 likely benign Hypoparathyroidism, deafness, renal disease syndrome 2024-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000488087 SCV003520428 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs750735308, gnomAD 0.009%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 120 of the GATA3 protein (p.Thr120Met). This variant has not been reported in the literature in individuals affected with GATA3-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GATA3 protein function. ClinVar contains an entry for this variant (Variation ID: 424946).

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