ClinVar Miner

Submissions for variant NM_001079.4(ZAP70):c.1510_1522del (p.Lys504fs)

dbSNP: rs730880319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005089250 SCV005834825 pathogenic ZAP70-Related Severe Combined Immunodeficiency 2024-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys504Profs*36) in the ZAP70 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZAP70 are known to be pathogenic (PMID: 8202712). This variant is present in population databases (rs730880319, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with severe combined immunodeficiency (PMID: 8202712, 11034358). This variant is also known as a 13-bp deletion involving nucleotides 1719 –1731. ClinVar contains an entry for this variant (Variation ID: 13256). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014164 SCV000034412 pathogenic Combined immunodeficiency due to ZAP70 deficiency 1994-06-10 no assertion criteria provided literature only

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