ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.1040_1041insAT (p.Tyr348fs)

dbSNP: rs2123507789
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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 RCV002039307 SCV002112211 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2021-04-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with ADA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the ADA gene (p.Tyr348Serfs*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the ADA protein and extend the protein by 105 additional amino acid residues.

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