ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.50C>T (p.Ala17Val)

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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 RCV003176603 SCV003861229 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-11 criteria provided, single submitter clinical testing The p.A17V variant (also known as c.50C>T), located in coding exon 1 of the LZTR1 gene, results from a C to T substitution at nucleotide position 50. The alanine at codon 17 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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.

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