ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.1726G>A (p.Gly576Ser)

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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 RCV001313980 SCV001504491 uncertain significance Chédiak-Higashi syndrome 2020-07-12 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 576 of the LYST protein (p.Gly576Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine.

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