ClinVar Miner

Submissions for variant NM_001079.4(ZAP70):c.939C>T (p.Ser313=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224758 SCV003920628 uncertain significance Combined immunodeficiency due to ZAP70 deficiency; Autoimmune disease, multisystem, infantile-onset, 2 2022-10-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.004% (3/68042) (https://gnomad.broadinstitute.org/variant/2-97734569-C-T?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003745565 SCV004514209 likely benign ZAP70-Related Severe Combined Immunodeficiency 2023-07-11 criteria provided, single submitter clinical testing

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