ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2240A>G (p.Tyr747Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004561095 SCV005047836 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-12-29 criteria provided, single submitter clinical testing The p.Y747C variant (also known as c.2240A>G), located in coding exon 19 of the LZTR1 gene, results from an A to G substitution at nucleotide position 2240. The tyrosine at codon 747 is replaced by cysteine, 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 RCV004573497 SCV005060692 uncertain significance Schwannomatosis 2 2023-12-05 criteria provided, single submitter clinical testing

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