ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1859T>C (p.Leu620Pro)

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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 RCV002414879 SCV002722194 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-06-27 criteria provided, single submitter clinical testing The p.L620P variant (also known as c.1859T>C), located in coding exon 16 of the LZTR1 gene, results from a T to C substitution at nucleotide position 1859. The leucine at codon 620 is replaced by proline, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003774529 SCV004681825 uncertain significance not provided 2023-01-21 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1781462). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 620 of the LZTR1 protein (p.Leu620Pro).
Baylor Genetics RCV004572447 SCV005060599 uncertain significance Schwannomatosis 2 2024-03-22 criteria provided, single submitter clinical testing

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