ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.805C>G (p.Pro269Ala)

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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 RCV004561218 SCV005048037 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-01-29 criteria provided, single submitter clinical testing The p.P269A variant (also known as c.805C>G), located in coding exon 9 of the LZTR1 gene, results from a C to G substitution at nucleotide position 805. The proline at codon 269 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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