ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2075T>C (p.Phe692Ser)

gnomAD frequency: 0.00001  dbSNP: rs766752047
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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 RCV001932597 SCV002127515 uncertain significance not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 692 of the LZTR1 protein (p.Phe692Ser). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 1367885). 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 with a negative predictive value of 80%. 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 RCV002422930 SCV002726729 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-03-14 criteria provided, single submitter clinical testing The p.F692S variant (also known as c.2075T>C), located in coding exon 18 of the LZTR1 gene, results from a T to C substitution at nucleotide position 2075. The phenylalanine at codon 692 is replaced by serine, 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.
Baylor Genetics RCV003464186 SCV004193637 uncertain significance Schwannomatosis 2 2023-06-22 criteria provided, single submitter clinical testing

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