ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2954del (p.Met985fs)

dbSNP: rs2500524015
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV002292694 SCV002584941 likely pathogenic Rod-cone dystrophy 2022-09-01 criteria provided, single submitter clinical testing The variant results in a reading frame shift leading to a premature stop codon and thus with high probability to loss of function of the corresponding protein. The variant is not listed in control collectives (gnomAD) and has not yet been described in the ClinVar database or in the literature. In case of stop or nonsense variants in a gene that matches the phenotype, in which "loss of function" changes represent a known pathomechanism, there is a high probability of pathogenetic relevance. The variant is currently to be regarded as a "likely pathogenic variant" (ACMG criteria).

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