ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)

dbSNP: rs1555613543
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660001 SCV000781931 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660001 SCV003442613 pathogenic Neurofibromatosis, type 1 2023-08-03 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: 547603). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 23656349, 31370276). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln616*) 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).
Baylor Genetics RCV003459560 SCV004198991 pathogenic Juvenile myelomonocytic leukemia 2022-03-27 criteria provided, single submitter clinical testing

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