ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter)

dbSNP: rs1489766065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813726 SCV002060934 likely pathogenic Noonan syndrome and Noonan-related syndrome 2020-03-02 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003339750 SCV004047874 uncertain significance Noonan syndrome 10 criteria provided, single submitter clinical testing The stop gain c.2350C>T (p.Gln784Ter) variant in LZTR1 gene has been reported in ClinVar as Likely pathogenic but no evidences are provided for independent assessment. The variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The nucleotide change c.2350C>T in LZTR1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Loss of function variants have been previously reported to be disease causing. However this variant is present in the penultimate exon so functional studies will be required to prove protein truncation. Hence the variant is classified as Uncertain Significance.

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