ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.2147G>A (p.Cys716Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049914 SCV001213991 uncertain significance Chédiak-Higashi syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 716 of the LYST protein (p.Cys716Tyr). This variant is present in population databases (rs369676722, gnomAD 0.05%). 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: 846580). 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: "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.
Revvity Omics, Revvity RCV001049914 SCV003815221 uncertain significance Chédiak-Higashi syndrome 2019-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346280 SCV004067738 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.2147G>A (p.C716Y) alteration is located in exon 5 (coding exon 3) of the LYST gene. This alteration results from a G to A substitution at nucleotide position 2147, causing the cysteine (C) at amino acid position 716 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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