ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer)

dbSNP: rs771115661
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317299 SCV000670580 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-07-17 criteria provided, single submitter clinical testing The c.244_247delTCTC pathogenic mutation (also known as p.Q83*), located in coding exon 3 of the NF1 gene, results from a deletion of 4 nucleotides at nucleotide positions 244 to 247. This changes the amino acid from a glutamine to a stop codon within coding exon 3. This mutation has been reported in 2 patients suspected of or meeting NIH clinical criteria for neurofibromatosis type 1 (NF1) (Bianchessi D et al. Mol Genet Genomic Med. 2015 Jul 7;3(6):513-25). 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.
GeneDx RCV000681036 SCV000808489 pathogenic not provided 2023-02-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26740943)
Labcorp Genetics (formerly Invitae), Labcorp RCV001223294 SCV001395436 pathogenic Neurofibromatosis, type 1 2022-08-13 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: 484139). This variant is also known as c.240_243delTCTC. This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 26740943). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln83*) 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000681036 SCV002522527 pathogenic not provided 2022-01-24 criteria provided, single submitter clinical testing PP4, PM2, PVS1
Genome-Nilou Lab RCV001223294 SCV002561562 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569235 SCV005052301 likely pathogenic Juvenile myelomonocytic leukemia 2023-12-19 criteria provided, single submitter clinical testing

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