ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.872C>T (p.Ser291Leu) (rs121908721)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000002048 SCV000800041 likely pathogenic Severe combined immunodeficiency due to ADA deficiency 2018-05-18 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788574 SCV000927730 likely pathogenic not provided 2018-06-06 criteria provided, single submitter clinical testing
Invitae RCV000002048 SCV000935377 pathogenic Severe combined immunodeficiency due to ADA deficiency 2019-06-14 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 291 of the ADA protein (p.Ser291Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs121908721, ExAC 0.01%). This variant has been observed in combination with other ADA variants in several individuals affected with Adenosine deaminase deficiency (PMID: 1284479, 26376800, 26255240). ClinVar contains an entry for this variant (Variation ID: 1971). This variant has been reported to affect ADA protein function (PMID:9758612). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002048 SCV000022206 pathogenic Severe combined immunodeficiency due to ADA deficiency 1992-01-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000002048 SCV000090642 not provided Severe combined immunodeficiency due to ADA deficiency no assertion provided not provided

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