ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2369G>A (p.Arg790Gln)

dbSNP: rs555586109
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001360560 SCV001556485 uncertain significance not provided 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 790 of the LZTR1 protein (p.Arg790Gln). This variant is present in population databases (rs555586109, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1052388). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV001360560 SCV002567738 uncertain significance not provided 2022-02-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002456547 SCV002735843 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-03-03 criteria provided, single submitter clinical testing The p.R790Q variant (also known as c.2369G>A), located in coding exon 20 of the LZTR1 gene, results from a G to A substitution at nucleotide position 2369. The arginine at codon 790 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not 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.
Baylor Genetics RCV004570871 SCV005060680 uncertain significance Schwannomatosis 2 2023-12-19 criteria provided, single submitter clinical testing

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