ClinVar Miner

Submissions for variant NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs)

dbSNP: rs760698812
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768381 SCV000899013 likely pathogenic Ghosal hematodiaphyseal dysplasia; Thromboxane synthetase deficiency 2017-12-14 criteria provided, single submitter clinical testing TBXAS1 NM_001061.4 exon7 c.583_584del p.Ala195Leufs*12: This variant has not been reported in the literature but is present in 2/11672 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs760698812). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents a deletion of two nucleotides and creates a premature stop codon 12 amino acids downstream from this location which results in an absent or abnormal protein. However, there is limited informaton available and loss of function variants have not been established as mechanism of disease for this gene. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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