ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.55G>C (p.Gly19Arg)

gnomAD frequency: 0.00001  dbSNP: rs375788038
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001972222 SCV002211025 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing 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 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 19 of the LZTR1 protein (p.Gly19Arg). ClinVar contains an entry for this variant (Variation ID: 1435344). 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.
Ambry Genetics RCV002344081 SCV002649182 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-02-20 criteria provided, single submitter clinical testing The p.G19R variant (also known as c.55G>C), located in coding exon 1 of the LZTR1 gene, results from a G to C substitution at nucleotide position 55. The glycine at codon 19 is replaced by arginine, 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 RCV003471083 SCV004193641 uncertain significance Schwannomatosis 2 2023-06-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994362 SCV004812981 uncertain significance not specified 2024-02-04 criteria provided, single submitter clinical testing

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