ClinVar Miner

Submissions for variant NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)

gnomAD frequency: 0.00010  dbSNP: rs62637037
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247327 SCV002518412 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000086260 SCV003444650 pathogenic not provided 2023-07-07 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: 11421). This premature translational stop signal has been observed in individual(s) with congenital stationary night blindness (PMID: 11062471). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs62637037, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Trp350*) in the NYX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 132 amino acid(s) of the NYX protein.
OMIM RCV000012174 SCV000032408 pathogenic Congenital stationary night blindness 1A 2000-11-01 no assertion criteria provided literature only
Retina International RCV000086260 SCV000118406 not provided not provided no assertion provided not provided

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