ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.23G>T (p.Gly8Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003557084 SCV004284929 uncertain significance not provided 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 8 of the LZTR1 protein (p.Gly8Val). 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LZTR1 protein function. 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 RCV004558147 SCV005047868 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-12-10 criteria provided, single submitter clinical testing The p.G8V variant (also known as c.23G>T), located in coding exon 1 of the LZTR1 gene, results from a G to T substitution at nucleotide position 23. The glycine at codon 8 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV004574081 SCV005060610 uncertain significance Schwannomatosis 2 2024-03-12 criteria provided, single submitter clinical testing

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