ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2122A>T (p.Ile708Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470022 SCV004193607 uncertain significance Schwannomatosis 2 2023-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004560179 SCV005047494 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-06-12 criteria provided, single submitter clinical testing The p.I708F variant (also known as c.2122A>T), located in coding exon 18 of the LZTR1 gene, results from an A to T substitution at nucleotide position 2122. The isoleucine at codon 708 is replaced by phenylalanine, an amino acid with highly 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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