ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) (rs797045165)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658480 SCV000778847 pathogenic not provided 2021-11-12 criteria provided, single submitter clinical testing Published functional studies demonstrate the variant results in the upregulation of RAS-MAPK signaling (Motta et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30664951, 29346770, 25795793, 27942422, 26446362, 25335493, 30481304)
Fulgent Genetics,Fulgent Genetics RCV000763073 SCV000893583 pathogenic Schwannomatosis 2; Noonan syndrome 10 2018-10-31 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000191028 SCV000996259 pathogenic Noonan syndrome 10 2019-03-01 criteria provided, single submitter clinical testing This variant has been previously reported as a heterozygous change in six related individuals with autosomal dominant Noonan Syndrome (PMID: 25795793) and as an apparently de novo change in an individual with schwannomatosis (PMID: 25335493). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. This variant has been classified as a de novo pathogenic variant for Noonan syndrome in ClinVar (Variation ID: 209089). In-silico analyses support a damaging effect of the c.850C>T (p.Arg284Cys) variant on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.850C>T (p.Arg284Cys) variant is classified as pathogenic.
OMIM RCV000191028 SCV000246008 pathogenic Noonan syndrome 10 2015-06-01 no assertion criteria provided literature only

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