ClinVar Miner

Submissions for variant NM_001079.4(ZAP70):c.692C>T (p.Thr231Met)

gnomAD frequency: 0.00002  dbSNP: rs141613906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335607 SCV001528792 uncertain significance Autoimmune disease, multisystem, infantile-onset, 2 2018-06-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001760438 SCV001999172 uncertain significance not provided 2019-08-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002547342 SCV003275891 uncertain significance ZAP70-Related Severe Combined Immunodeficiency 2022-08-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 231 of the ZAP70 protein (p.Thr231Met). This variant is present in population databases (rs141613906, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ZAP70-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033248). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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