ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2453T>C (p.Leu818Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002300903 SCV002588163 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002443295 SCV002732780 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-12-09 criteria provided, single submitter clinical testing The p.L818P variant (also known as c.2453T>C), located in coding exon 21 of the LZTR1 gene, results from a T to C substitution at nucleotide position 2453. The leucine at codon 818 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005025774 SCV005656777 uncertain significance Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 2023-12-29 criteria provided, single submitter clinical testing

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