ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1291dup (p.Ala431fs)

dbSNP: rs2143913948
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960649 SCV002231851 pathogenic Neurofibromatosis, type 1 2022-05-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1454354). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala431Glyfs*8) 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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