ClinVar Miner

Submissions for variant NM_001061.7(TBXAS1):c.856C>T (p.Arg286Ter)

gnomAD frequency: 0.00010  dbSNP: rs766799764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599095 SCV000710469 uncertain significance not provided 2018-01-31 criteria provided, single submitter clinical testing The R287X variant in the TBXAS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R287X variant is observed in 7/18866 (0.04%) alleles from individuals of East Asian background, and in 20/275,228 total alleles in large population cohorts (Lek et al., 2016). We interpret R287X as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000599095 SCV003786643 pathogenic not provided 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg287*) in the TBXAS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TBXAS1 are known to be pathogenic (PMID: 22735388). This variant is present in population databases (rs766799764, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TBXAS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 504161). For these reasons, this variant has been classified as Pathogenic.

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