ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.248T>C (p.Phe83Ser)

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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 RCV002602809 SCV003497941 uncertain significance not provided 2023-01-31 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. 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. This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 83 of the LZTR1 protein (p.Phe83Ser).
Baylor Genetics RCV003465975 SCV004193672 uncertain significance Schwannomatosis 2 2023-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004560054 SCV005047900 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-07-13 criteria provided, single submitter clinical testing The p.F83S variant (also known as c.248T>C), located in coding exon 2 of the LZTR1 gene, results from a T to C substitution at nucleotide position 248. The phenylalanine at codon 83 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.

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