ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1328G>A (p.Cys443Tyr)

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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 RCV002385838 SCV002691608 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-10-24 criteria provided, single submitter clinical testing The p.C443Y variant (also known as c.1328G>A), located in coding exon 12 of the LZTR1 gene, results from a G to A substitution at nucleotide position 1328. The cysteine at codon 443 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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 RCV004572403 SCV005060697 uncertain significance Schwannomatosis 2 2023-11-29 criteria provided, single submitter clinical testing

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