ClinVar Miner

Submissions for variant NM_000266.4(NDP):c.384C>A (p.Cys128Ter)

dbSNP: rs104894873
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418772 SCV000516815 pathogenic not provided 2015-04-22 criteria provided, single submitter clinical testing The C128X nonsense variant in the NDP gene has been reported previously in association with Norriedisease (Wong et al., 1993; Schuback et al., 1995). This variant is predicted to cause loss of normal protein function through protein truncation. Therefore, we interpret this variant as pathogenic.
Eurofins Ntd Llc (ga) RCV000418772 SCV000700538 pathogenic not provided 2016-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000418772 SCV002238050 pathogenic not provided 2021-07-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NDP protein in which other variant(s) (p.Cys131*) have been determined to be pathogenic (PMID: 25711638; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 10686). This variant is also known as C792A (Cys128stp). This premature translational stop signal has been observed in individuals with Norrie disease (PMID: 7627181, 8240113). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys128*) in the NDP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the NDP protein.
Molecular Medicine, University of Pavia RCV000011432 SCV004023262 pathogenic Atrophia bulborum hereditaria 2023-07-28 criteria provided, single submitter research
OMIM RCV000011432 SCV000031664 pathogenic Atrophia bulborum hereditaria 1993-11-01 no assertion criteria provided literature only

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