ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.682del (p.Cys228fs)

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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 RCV002369642 SCV002665246 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-03-22 criteria provided, single submitter clinical testing The c.682delT pathogenic mutation, located in coding exon 8 of the LZTR1 gene, results from a deletion of one nucleotide at nucleotide position 682, causing a translational frameshift with a predicted alternate stop codon (p.C228Afs*24). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). 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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