ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7647del (p.Asp2550fs)

dbSNP: rs1597865773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992435 SCV001144745 likely pathogenic not provided 2019-08-13 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/282466 chr).
Ambry Genetics RCV002391050 SCV002668662 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-06-02 criteria provided, single submitter clinical testing The c.7584delA pathogenic mutation, located in coding exon 51 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 7584, causing a translational frameshift with a predicted alternate stop codon (p.D2529Tfs*20). This alteration has been described in an individual with at least 5 cafe-au-lait macules (Castellanos E et al. Clin Genet, 2020 02;97:264-275). In addition to the clinical data presented in the literature, 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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