ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1150-1G>T

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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 RCV002452700 SCV002615872 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-01-07 criteria provided, single submitter clinical testing The c.1150-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 11 of 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 and will result in the creation or strengthening of a novel splice acceptor site. Based on the supporting evidence, this variant is likely pathogenic for an increased risk of nerve sheath tumors 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.

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