ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.1546G>A (p.Val516Met)

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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 RCV003224658 SCV003919765 uncertain significance Severe combined immunodeficiency due to CARMIL2 deficiency 2021-12-22 criteria provided, single submitter clinical testing CARMIL2 NM_001013838.3 exon 17 p.Val516Met (c.1546G>A): This variant has not been reported in the literature, but is present in 0.02% (6/33686) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-67682832-G-A?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003420619 SCV004106726 uncertain significance CARMIL2-related disorder 2022-09-13 criteria provided, single submitter clinical testing The CARMIL2 c.1546G>A variant is predicted to result in the amino acid substitution p.Val516Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-67682832-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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