ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.284del (p.Ala95fs)

dbSNP: rs1597629895
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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 RCV002319621 SCV001177783 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-05-10 criteria provided, single submitter clinical testing The c.284delC pathogenic mutation, located in coding exon 3 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 284, causing a translational frameshift with a predicted alternate stop codon (p.A95Vfs*8). 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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