ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.838G>T (p.Gly280Ter)

dbSNP: rs2033057699
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068787 SCV001233919 pathogenic Atrioventricular septal defect 5 2019-05-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GATA6 are known to be pathogenic (PMID: 22158542, 24310933). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with GATA6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Gly280*) in the GATA6 gene. It is expected to result in an absent or disrupted protein product.

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