ClinVar Miner

Submissions for variant NM_014017.4(LAMTOR2):c.231+7A>G

gnomAD frequency: 0.00002  dbSNP: rs750943723
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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 RCV001280992 SCV001468379 uncertain significance Primary immunodeficiency syndrome due to p14 deficiency 2021-03-30 criteria provided, single submitter clinical testing LAMTOR2 NM_014017.3 exon 2 c.231+7A>G: This variant has not been reported in the literature but is present in 0.01% (5/34592) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-156025223-A-G?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. 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 RCV001469051 SCV001673123 likely benign not provided 2019-12-03 criteria provided, single submitter clinical testing

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