ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1909_1910del (p.Pro637fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002408404 SCV002720534 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-11-20 criteria provided, single submitter clinical testing The c.1909_1910delCC pathogenic mutation, located in coding exon 16 of the LZTR1 gene, results from a deletion of two nucleotides at nucleotide positions 1909 to 1910, causing a translational frameshift with a predicted alternate stop codon (p.P637Sfs*31). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the supporting evidence, this variant is expected to be causative of autosomal dominant schwannomatosis and, when found in trans with a second pathogenic mutation, autosomal recessive Noonan syndrome.
Invitae RCV003774555 SCV004664479 pathogenic not provided 2024-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro637Serfs*31) in the LZTR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LZTR1 are known to be pathogenic (PMID: 24362817, 25335493, 25480913, 25795793, 29469822, 30368668, 30442762, 30442766, 30481304, 30859559). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1782449). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.