ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1063C>T (p.Arg355Trp)

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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 RCV002412674 SCV002716309 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-04-26 criteria provided, single submitter clinical testing The p.R355W variant (also known as c.1063C>T), located in coding exon 10 of the LZTR1 gene, results from a C to T substitution at nucleotide position 1063. The arginine at codon 355 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003465739 SCV004191201 uncertain significance Schwannomatosis 2 2023-10-24 criteria provided, single submitter clinical testing

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