ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.6718C>T (p.His2240Tyr)

gnomAD frequency: 0.00003  dbSNP: rs186152859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001896050 SCV002163678 uncertain significance Chédiak-Higashi syndrome 2022-08-18 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 2240 of the LYST protein (p.His2240Tyr). This variant is present in population databases (rs186152859, gnomAD 0.01%). 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: 1392094). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264418 SCV002543651 uncertain significance Autoinflammatory syndrome 2022-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001896050 SCV002793050 uncertain significance Chédiak-Higashi syndrome 2022-05-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001896050 SCV003815302 uncertain significance Chédiak-Higashi syndrome 2019-01-18 criteria provided, single submitter clinical testing

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