ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.824G>A (p.Arg275Gln)

gnomAD frequency: 0.00004  dbSNP: rs778001313
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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 RCV002020960 SCV002304865 uncertain significance not provided 2024-01-21 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 275 of the LZTR1 protein (p.Arg275Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1515257). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LZTR1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002407304 SCV002676106 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-11-15 criteria provided, single submitter clinical testing The p.R275Q variant (also known as c.824G>A), located in coding exon 9 of the LZTR1 gene, results from a G to A substitution at nucleotide position 824. The arginine at codon 275 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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.
Revvity Omics, Revvity RCV002020960 SCV003815341 uncertain significance not provided 2020-07-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003471275 SCV004193668 uncertain significance Schwannomatosis 2 2023-05-10 criteria provided, single submitter clinical testing

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