ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.484T>C (p.Trp162Arg)

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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 RCV002340282 SCV002639451 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-10-08 criteria provided, single submitter clinical testing The p.W162R variant (also known as c.484T>C), located in coding exon 5 of the LZTR1 gene, results from a T to C substitution at nucleotide position 484. The tryptophan at codon 162 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096494 SCV003453880 uncertain significance not provided 2022-09-30 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. 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. 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 0.007%). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 162 of the LZTR1 protein (p.Trp162Arg).
Fulgent Genetics, Fulgent Genetics RCV005032243 SCV005656728 uncertain significance Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 2024-03-25 criteria provided, single submitter clinical testing

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