ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1516C>T (p.Pro506Ser)

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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 RCV002392320 SCV002709834 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-10 criteria provided, single submitter clinical testing The p.P506S variant (also known as c.1516C>T), located in coding exon 14 of the LZTR1 gene, results from a C to T substitution at nucleotide position 1516. The proline at codon 506 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
Baylor Genetics RCV003464520 SCV004193636 uncertain significance Schwannomatosis 2 2023-06-23 criteria provided, single submitter clinical testing

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