ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7838del (p.Pro2613fs)

dbSNP: rs1131691129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002434406 SCV001189253 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-10-02 criteria provided, single submitter clinical testing The c.7775delC pathogenic mutation, located in coding exon 52 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 7775, causing a translational frameshift with a predicted alternate stop codon (p.P2592Rfs*11). 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.
Invitae RCV001862383 SCV002231894 pathogenic Neurofibromatosis, type 1 2021-12-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 827252). This variant is also known as c.7774delC or c.7838_7838delC (p.Pro2613Argfsx11). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 28068329, 30308447). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro2592Argfs*11) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).
Genome-Nilou Lab RCV001862383 SCV002560590 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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