ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.94G>A (p.Ala32Thr)

gnomAD frequency: 0.00001  dbSNP: rs773545065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617409 SCV000736264 uncertain significance Cardiovascular phenotype 2016-06-06 criteria provided, single submitter clinical testing The p.A32T variant (also known as c.94G>A), located in coding exon 1 of the GATA4 gene, results from a G to A substitution at nucleotide position 94. The alanine at codon 32 is replaced by threonine, an amino acid with similar properties. Based on data from ExAC, the A allele has an overall frequency of less than 0.01% (1/14019). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 4784 samples (9568 alleles) with coverage at this position. 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.
Invitae RCV001219924 SCV001391889 uncertain significance Atrioventricular septal defect 4 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 32 of the GATA4 protein (p.Ala32Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GATA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 518796). 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. 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.

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