ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.82C>A (p.His28Asn)

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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 RCV003118771 SCV003787370 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2420246). This variant has not been reported in the literature in individuals affected with GATA3-related conditions. This variant is present in population databases (rs202045701, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 28 of the GATA3 protein (p.His28Asn).
PreventionGenetics, part of Exact Sciences RCV003396896 SCV004104084 uncertain significance GATA3-related disorder 2023-02-22 criteria provided, single submitter clinical testing The GATA3 c.82C>A variant is predicted to result in the amino acid substitution p.His28Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of European (Non-Finnish) descent in gnomAD, which may be too common for an autosomal dominant disorder (http://gnomad.broadinstitute.org/variant/10-8097700-C-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005047421 SCV005683112 likely benign Hypoparathyroidism, deafness, renal disease syndrome 2024-03-26 criteria provided, single submitter clinical testing

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