ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1559C>T (p.Pro520Leu)

dbSNP: rs1569157089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680838 SCV000808287 uncertain significance not provided 2017-11-24 criteria provided, single submitter clinical testing The P520L variant has been published as a pathogenic variant in association with Schwannomatosis (Piotrowski et al., 2014) with limited evidence for pathogenicity. The P520L variant is not observed in large population cohorts (Lek et al., 2016). The P520L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. No nearby missense variants have been reported in the Human Gene Mutation Database (Stenson et al., 2014). In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000785625 SCV000924207 uncertain significance Schwannomatosis 2 criteria provided, single submitter research

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