ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1384A>G (p.Ile462Val)

gnomAD frequency: 0.00002  dbSNP: rs751597202
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320695 SCV001511490 uncertain significance not provided 2024-01-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 462 of the LZTR1 protein (p.Ile462Val). This variant is present in population databases (rs751597202, gnomAD 0.01%). 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: 1021016). 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 RCV002384412 SCV002699864 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-02-15 criteria provided, single submitter clinical testing The p.I462V variant (also known as c.1384A>G), located in coding exon 13 of the LZTR1 gene, results from an A to G substitution at nucleotide position 1384. The isoleucine at codon 462 is replaced by valine, 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.
GeneDx RCV001320695 SCV004023170 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing 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
Baylor Genetics RCV003469544 SCV004191302 uncertain significance Schwannomatosis 2 2024-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001320695 SCV005195311 uncertain significance not provided criteria provided, single submitter not provided

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