ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.10123A>G (p.Ile3375Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202135 SCV001373238 uncertain significance Chédiak-Higashi syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 3375 of the LYST protein (p.Ile3375Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs770331918, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with LYST-related conditions. 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.

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