ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.3107A>C (p.Glu1036Ala)

gnomAD frequency: 0.00004  dbSNP: rs559751044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262041 SCV002543622 uncertain significance Autoinflammatory syndrome 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003095935 SCV003016727 uncertain significance Chédiak-Higashi syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 1036 of the LYST protein (p.Glu1036Ala). This variant is present in population databases (rs559751044, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with LYST-related conditions. ClinVar contains an entry for this variant (Variation ID: 1694319). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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