ClinVar Miner

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

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Total submissions: 2
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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.
Labcorp Genetics (formerly Invitae), Labcorp 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.

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