ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp)

gnomAD frequency: 0.00001  dbSNP: rs761351181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994284 SCV001147717 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Invitae RCV001359857 SCV001555745 uncertain significance Chédiak-Higashi syndrome 2022-01-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 3320 of the LYST protein (p.Arg3320Trp). This variant is present in population databases (rs761351181, gnomAD 0.003%). 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: 806383). 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: "Deleterious"; PolyPhen-2: "Probably 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.
Revvity Omics, Revvity Omics RCV001359857 SCV003815293 uncertain significance Chédiak-Higashi syndrome 2019-01-23 criteria provided, single submitter clinical testing

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