ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.435del (p.Leu146fs)

dbSNP: rs1968165217
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228949 SCV001401379 uncertain significance Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-10-04 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. ClinVar contains an entry for this variant (Variation ID: 956193). 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.Leu146Cysfs*41) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 154 amino acid(s) of the CRX protein.

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