ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.410del (p.Leu137fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309062 SCV002602871 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2022-03-17 criteria provided, single submitter clinical testing NM_000022.2(ADA):c.410delT(L137Rfs*42) is expected to be pathogenic in the context of adenosine deaminase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ADA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV002309062 SCV004216615 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-10-28 criteria provided, single submitter clinical testing

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