ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.735dup (p.Gln246fs)

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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 RCV002380297 SCV002674989 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-05-07 criteria provided, single submitter clinical testing The c.735dupG pathogenic mutation, located in coding exon 8 of the LZTR1 gene, results from a duplication of G at nucleotide position 735, causing a translational frameshift with a predicted alternate stop codon (p.Q246Afs*14). 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 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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