ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2388del (p.Ala797fs)

dbSNP: rs1555614011
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002535752 SCV002953086 pathogenic Neurofibromatosis, type 1 2023-06-22 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: 635819). This variant is also known as c.2385del (p.P795fs). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 31533651). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala797Profs*24) 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).
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University RCV000787329 SCV000926271 pathogenic Neurofibroma 2019-06-29 no assertion criteria provided clinical testing

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