ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.792-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002416742 SCV002677037 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-09-28 criteria provided, single submitter clinical testing The c.792-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 9 in the LZTR1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Based on the supporting evidence, this variant is likely pathogenic for an increased risk of LZTR1-related schwannomatosis (SWN) and would be expected to cause autosomal recessive Noonan syndrome when present along with a second pathogenic or likely pathogenic variant on the other allele; however, the association of this alteration with autosomal dominant Noonan syndrome is unlikely.

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