ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.548A>T (p.Tyr183Phe)

gnomAD frequency: 0.00001  dbSNP: rs538624569
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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 RCV001900477 SCV002138869 uncertain significance not provided 2023-07-06 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. ClinVar contains an entry for this variant (Variation ID: 1373888). 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 tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 183 of the LZTR1 protein (p.Tyr183Phe).
Ambry Genetics RCV002343944 SCV002654357 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-08-16 criteria provided, single submitter clinical testing The p.Y183F variant (also known as c.548A>T), located in coding exon 6 of the LZTR1 gene, results from an A to T substitution at nucleotide position 548. The tyrosine at codon 183 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003470982 SCV004191281 uncertain significance Schwannomatosis 2 2023-08-28 criteria provided, single submitter clinical testing

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