ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1785+2T>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 RCV002404145 SCV002710389 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-10-30 criteria provided, single submitter clinical testing The c.1785+2T>G intronic variant results from a T to G substitution two nucleotides after coding exon 15 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 donor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. Based on the majority of available evidence to date, this variant is likely to be pathogenic for autosomal dominant risk of schwannomatosis and would be expected to cause autosomal recessive Noonan syndrome when present along with a second pathogenic variant on the other allele.

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