ClinVar Miner

Submissions for variant NM_001301365.1(LYST):c.1565C>T (p.Ser522Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629215 SCV000750133 uncertain significance Chédiak-Higashi syndrome 2017-11-15 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 522 of the LYST protein (p.Ser522Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs147963856, ExAC 0.02%). This variant has not been reported in the literature in individuals with LYST-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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.
Illumina Clinical Services Laboratory,Illumina RCV000629215 SCV001254929 uncertain significance Chédiak-Higashi syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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