ClinVar Miner

Submissions for variant NM_001061.7(TBXAS1):c.614_615del (p.Pro205fs)

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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 RCV002626624 SCV002960511 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro206Argfs*41) 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 (rs766421283, gnomAD 0.004%). 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: 1930061). For these reasons, this variant has been classified as Pathogenic.

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