ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4435_4436del (p.Phe1479fs)

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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 RCV002333518 SCV002631135 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-08-14 criteria provided, single submitter clinical testing The c.4372_4373delTT pathogenic mutation, located in coding exon 33 of the NF1 gene, results from a deletion of two nucleotides at nucleotide positions 4372 to 4373, causing a translational frameshift with a predicted alternate stop codon (p.F1458Pfs*2). 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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