ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.447dup (p.Ser150fs)

dbSNP: rs61748444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247677 SCV001421114 pathogenic Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser150Leufs*24) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 150 amino acid(s) of the CRX protein. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99607). This premature translational stop signal has been observed in individual(s) with cone-rod dystrophy (PMID: 12359607). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
Retina International RCV000086003 SCV000118146 not provided not provided no assertion provided not provided

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