ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.49del (p.His17fs)

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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 RCV003499347 SCV004329390 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His17Thrfs*2) in the ADA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADA are known to be pathogenic (PMID: 26255240, 26376800). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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