ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1834A>T (p.Ile612Phe)

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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 RCV002412700 SCV002714677 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-02-22 criteria provided, single submitter clinical testing The p.I612F variant (also known as c.1834A>T), located in coding exon 16 of the LZTR1 gene, results from an A to T substitution at nucleotide position 1834. The isoleucine at codon 612 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003465740 SCV004191267 uncertain significance Schwannomatosis 2 2023-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003542368 SCV004244705 uncertain significance not provided 2023-11-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 612 of the LZTR1 protein (p.Ile612Phe). This variant is not present in population databases (gnomAD no frequency). 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: 1781013). 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.

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