ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2330T>C (p.Leu777Pro)

dbSNP: rs1274127264
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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 RCV002036427 SCV002314365 uncertain significance not provided 2021-01-28 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with LZTR1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 777 of the LZTR1 protein (p.Leu777Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Ambry Genetics RCV002443077 SCV002732496 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-01-05 criteria provided, single submitter clinical testing The p.L777P variant (also known as c.2330T>C), located in coding exon 20 of the LZTR1 gene, results from a T to C substitution at nucleotide position 2330. The leucine at codon 777 is replaced by proline, an amino acid with similar 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 RCV004572003 SCV005060706 uncertain significance Schwannomatosis 2 2023-11-22 criteria provided, single submitter clinical testing

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