ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)

dbSNP: rs753245823
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002413364 SCV002721951 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-08-05 criteria provided, single submitter clinical testing The p.C622* pathogenic mutation (also known as c.1866T>A), located in coding exon 17 of the NF1 gene, results from a T to A substitution at nucleotide position 1866. This changes the amino acid from a cysteine to a stop codon within coding exon 17. 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 RCV003320664 SCV004025725 pathogenic not provided 2023-02-09 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: 28961165)
Baylor Genetics RCV003470618 SCV004198267 pathogenic Juvenile myelomonocytic leukemia 2023-10-10 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000497140 SCV000588736 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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