ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1451A>C (p.Lys484Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002394610 SCV002701854 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-04-14 criteria provided, single submitter clinical testing The p.K484T variant (also known as c.1451A>C), located in coding exon 14 of the LZTR1 gene, results from an A to C substitution at nucleotide position 1451. The lysine at codon 484 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003561009 SCV004277216 uncertain significance not provided 2022-10-27 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 484 of the LZTR1 protein (p.Lys484Thr).
Baylor Genetics RCV004572414 SCV005060635 uncertain significance Schwannomatosis 2 2024-02-20 criteria provided, single submitter clinical testing

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