ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.104C>A (p.Ser35Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004784560 SCV005396641 likely pathogenic not provided 2024-05-08 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
Fulgent Genetics, Fulgent Genetics RCV005023712 SCV005656715 likely pathogenic Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 2024-01-11 criteria provided, single submitter clinical testing

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