ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.705del (p.Leu236fs)

dbSNP: rs1225623204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041522 SCV001205143 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2019-03-30 criteria provided, single submitter clinical testing This variant has been observed in combination with another ADA variant in an individual affected with adenosine deaminase deficiency (PMID: 18952502). This variant is also known as 800delG in the literature. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ADA are known to be pathogenic (PMID: 26255240, 26376800). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu236Trpfs*75) in the ADA gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV001041522 SCV001977497 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2021-08-10 criteria provided, single submitter clinical testing

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