ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.780C>G (p.Phe260Leu)

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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 RCV002409936 SCV002673063 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-09-20 criteria provided, single submitter clinical testing The p.F260L variant (also known as c.780C>G), located in coding exon 8 of the LZTR1 gene, results from a C to G substitution at nucleotide position 780. The phenylalanine at codon 260 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003718555 SCV004518528 uncertain significance not provided 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 260 of the LZTR1 protein (p.Phe260Leu). This variant is present in population databases (no rsID available, 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: 1760717). 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.
Baylor Genetics RCV004572364 SCV005060625 uncertain significance Schwannomatosis 2 2024-02-27 criteria provided, single submitter clinical testing

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