ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.200_201del (p.Thr67fs)

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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 RCV004641553 SCV005141725 pathogenic Hereditary cancer-predisposing syndrome 2024-03-21 criteria provided, single submitter clinical testing The c.200_201delCA pathogenic mutation, located in coding exon 2 of the NF2 gene, results from a deletion of two nucleotides at nucleotide positions 200 to 201, causing a translational frameshift with a predicted alternate stop codon (p.T67Nfs*18). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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