ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.473T>G (p.Phe158Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283937 SCV002573166 uncertain significance Severe combined immunodeficiency due to CARMIL2 deficiency 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. While this variant results in missense change, protein truncation variants are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.38; 3Cnet: 0.82). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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