ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.880C>T (p.Arg294Cys)

dbSNP: rs771655758
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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 RCV001916590 SCV002196562 uncertain significance not provided 2023-09-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 294 of the LZTR1 protein (p.Arg294Cys). 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: 1420737). 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.
Ambry Genetics RCV002370529 SCV002685193 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-30 criteria provided, single submitter clinical testing The p.R294C variant (also known as c.880C>T), located in coding exon 9 of the LZTR1 gene, results from a C to T substitution at nucleotide position 880. The arginine at codon 294 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV004571620 SCV005060703 uncertain significance Schwannomatosis 2 2023-11-23 criteria provided, single submitter clinical testing

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