ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.449C>G (p.Ser150Ter)

dbSNP: rs864309706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203264 SCV000256742 pathogenic Benign concentric annular macular dystrophy 2014-09-25 criteria provided, single submitter research
Invitae RCV001208760 SCV001380166 pathogenic Leber congenital amaurosis 7; Cone-rod dystrophy 2 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser150*) 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. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant bull's eye maculopathy (PMID: 25259927). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 218921). For these reasons, this variant has been classified as Pathogenic.

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