ClinVar Miner

Submissions for variant NM_022787.4(NMNAT1):c.364del (p.Arg122fs)

dbSNP: rs1413885352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090802 SCV001246532 pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001256643 SCV002238203 pathogenic Leber congenital amaurosis 9 2023-03-08 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: 871050). This variant is also known as c.362delA (p.Glu121Glufs*20). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 22842229, 29178642). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg122Glyfs*20) in the NMNAT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 158 amino acid(s) of the NMNAT1 protein.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001256643 SCV001433015 pathogenic Leber congenital amaurosis 9 no assertion criteria provided research
Genomics England Pilot Project, Genomics England RCV001256643 SCV001759972 pathogenic Leber congenital amaurosis 9 no assertion criteria provided clinical testing

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