ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.957G>T (p.Gln319His)

dbSNP: rs1014327605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760773 SCV001990550 uncertain significance not provided 2019-07-24 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001760773 SCV002203385 uncertain significance not provided 2021-10-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 319 of the LZTR1 protein (p.Gln319His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.
Baylor Genetics RCV003464129 SCV004193667 uncertain significance Schwannomatosis 2 2023-05-10 criteria provided, single submitter clinical testing

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