ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.158G>T (p.Arg53Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004995451 SCV005616235 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-09-15 criteria provided, single submitter clinical testing The p.R53L variant (also known as c.158G>T), located in coding exon 1 of the LZTR1 gene, results from a G to T substitution at nucleotide position 158. The arginine at codon 53 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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