ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002467071 SCV002762114 likely pathogenic not provided 2022-06-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003464566 SCV004191836 likely pathogenic LZTR1-related schwannomatosis 2022-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002467071 SCV005796792 pathogenic not provided 2024-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln568*) in the LZTR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LZTR1 are known to be pathogenic (PMID: 24362817, 25335493, 25480913, 25795793, 29469822, 30368668, 30442762, 30442766, 30481304, 30859559). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1803401). For these reasons, this variant has been classified as Pathogenic.

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