ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.2512del (p.Gln838fs)

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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 RCV002577307 SCV002932216 pathogenic not provided 2024-04-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln838Lysfs*18) in the CEP250 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP250 are known to be pathogenic (PMID: 24780881, 29718797). This variant is present in population databases (rs757158876, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. ClinVar contains an entry for this variant (Variation ID: 1901883). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV004774700 SCV005201153 pathogenic Cone-rod dystrophy and hearing loss 2 2024-09-09 no assertion criteria provided literature only

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