ClinVar Miner

Submissions for variant NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)

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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 RCV003639347 SCV004561758 pathogenic Leber congenital amaurosis 9 2023-08-07 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 22842231). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp85*) in the NMNAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NMNAT1 are known to be pathogenic (PMID: 22842229). For these reasons, this variant has been classified as Pathogenic.

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