ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.100GAG[2] (p.Glu36del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002048606 SCV002299250 uncertain significance Chédiak-Higashi syndrome 2022-07-25 criteria provided, single submitter clinical testing This variant, c.106_108del, results in the deletion of 1 amino acid(s) of the LYST protein (p.Glu36del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LYST-related conditions. This variant is not present in population databases (gnomAD no frequency).

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