ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)

dbSNP: rs1599991611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990237 SCV001141114 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001233804 SCV001406416 pathogenic Leber congenital amaurosis 7; Cone-rod dystrophy 2 2021-12-08 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: 803571). This premature translational stop signal has been observed in individuals with autosomal dominant CRX-related conditions (PMID: 29641573, 31626798, 31630094, 32865313). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser167*) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 133 amino acid(s) of the CRX protein.

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