ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.594_606del (p.Ser199fs)

dbSNP: rs1968169319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040835 SCV001204425 uncertain significance Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-03-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 839142). This variant has not been reported in the literature in individuals affected with CRX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser199Leufs*16) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 101 amino acid(s) of the CRX protein.
Blueprint Genetics RCV001073684 SCV001239238 pathogenic Retinal dystrophy 2019-08-15 criteria provided, single submitter clinical testing

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