ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1243dup (p.His415fs)

dbSNP: rs1085307728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490081 SCV000577151 pathogenic not provided 2021-12-14 criteria provided, single submitter clinical testing Frameshift 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 in large population cohorts (Lek 2016); Observed in individuals with a personal or family history consistent with pathogenic variants in this gene referred for genetic testing at GeneDx and in published literature (Giugliano 2019, Kang 2020); This variant is associated with the following publications: (PMID: 31370276, 31776437)
Labcorp Genetics (formerly Invitae), Labcorp RCV003766748 SCV004641385 pathogenic Neurofibromatosis, type 1 2023-09-30 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: 426651). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 31370276, 31776437). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His415Profs*14) 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).

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