ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.529G>A (p.Val177Met) (rs121908719)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000059107 SCV000798724 likely pathogenic Severe combined immunodeficiency due to ADA deficiency 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV000059107 SCV000941432 pathogenic Severe combined immunodeficiency due to ADA deficiency 2019-03-29 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 177 of the ADA protein (p.Val177Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs121908719, ExAC 0.009%). This variant has been observed to segregate with ADA-SCID in several affected individuals (PMID: 8227344, 26376800). ClinVar contains an entry for this variant (Variation ID: 68265). Experimental studies have shown that this missense change (p.Val117Met) results in decreased ADA activity (PMID: 9758612). For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000059107 SCV000090632 not provided Severe combined immunodeficiency due to ADA deficiency no assertion provided not provided

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