ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.501del (p.Glu168fs)

dbSNP: rs2123743175
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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 RCV001966147 SCV002250479 uncertain significance Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-07-19 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with cone-rod dystrophy (PMID: 9390563). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu168Serfs*19) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 132 amino acid(s) of the CRX protein. ClinVar contains an entry for this variant (Variation ID: 1466734). 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.

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