ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2183A>G (p.Tyr728Cys)

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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 RCV003216360 SCV003911674 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-11-03 criteria provided, single submitter clinical testing The p.Y728C variant (also known as c.2183A>G), located in coding exon 18 of the LZTR1 gene, results from an A to G substitution at nucleotide position 2183. The tyrosine at codon 728 is replaced by cysteine, an amino acid with highly dissimilar 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 RCV003738402 SCV004553591 uncertain significance not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 728 of the LZTR1 protein (p.Tyr728Cys). 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: 2496783). 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. 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 RCV004572882 SCV005060646 uncertain significance Schwannomatosis 2 2024-02-07 criteria provided, single submitter clinical testing

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