ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1205T>C (p.Ile402Thr)

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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 RCV004560907 SCV005047222 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-09-27 criteria provided, single submitter clinical testing The p.I402T variant (also known as c.1205T>C), located in coding exon 11 of the LZTR1 gene, results from a T to C substitution at nucleotide position 1205. The isoleucine at codon 402 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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.

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