ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.333G>A (p.Pro111=)

dbSNP: rs1331416104
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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 RCV001927995 SCV002179438 likely benign Atrioventricular septal defect 4 2024-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324318 SCV002605866 likely benign Cardiovascular phenotype 2021-05-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004042868 SCV004114032 uncertain significance GATA4-related disorder 2022-11-08 criteria provided, single submitter clinical testing The GATA4 c.333G>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to create a cryptic splice acceptor site based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, such computer prediction programs are imperfect. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of South Asian descent in gnomAD; however, quality metrics at this site indicate this frequency may not be reliable (http://gnomad.broadinstitute.org/variant/8-11566154-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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