ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.3940-17dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510067 SCV001717004 benign Chédiak-Higashi syndrome 2024-01-06 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001510067 SCV002320680 uncertain significance Chédiak-Higashi syndrome 2022-02-16 criteria provided, single submitter clinical testing LYST NM_000081.3 intron 9 c.3940-10dup: This variant has not been reported in the literature but is present in 0.08% (35/41340) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-235800395-T-TA?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic duplication of 1 nucleotide with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Splice prediction tools do not suggest that this variant may affect splicing. However, 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.

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