Submissions for variant NM_021167.5(GATAD1):c.96T>G (p.His32Gln)

gnomAD frequency: 0.00099  dbSNP: rs532003876

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214667	SCV000271793	uncertain significance	not specified	2015-01-05	criteria provided, single submitter	clinical testing	The p.His32Gln variant in GATAD1 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.2% (2/1260) of African Americ an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs532003876). Computational prediction tools and conservation an alysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.His32Gln variant is uncertain.
GeneDx	RCV001697186	SCV000582439	likely benign	not provided	2020-06-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30391667)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861207	SCV001001461	likely benign	Dilated cardiomyopathy 2B	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372229	SCV002692646	uncertain significance	Cardiovascular phenotype	2023-07-10	criteria provided, single submitter	clinical testing	The p.H32Q variant (also known as c.96T>G), located in coding exon 1 of the GATAD1 gene, results from a T to G substitution at nucleotide position 96. The histidine at codon 32 is replaced by glutamine, an amino acid with highly similar properties. This variant was reported in a sudden death case with limited clinical details provided (Subbotina E et al. Forensic Sci Int, 2018 Dec;293:37-46). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000861207	SCV003920006	uncertain significance	Dilated cardiomyopathy 2B	2021-03-30	criteria provided, single submitter	clinical testing	GATAD1 NM_021167.4 exon 1 p.His32Gln (c.96T>G): This variant has not been reported in the literature but is present in 0.3% (34/10848) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/7-92077139-T-G). This variant is present in ClinVar (Variation ID:228696). Evolutionary conservation for this variant is limited or unavailable; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences	RCV003955272	SCV004773456	likely benign	GATAD1-related disorder	2022-03-09	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).