ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)

gnomAD frequency: 0.00004  dbSNP: rs562932233
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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 RCV001247354 SCV001420769 pathogenic Nephronophthisis 15 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln737*) in the CEP164 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP164 are known to be pathogenic (PMID: 22863007, 28125082, 32367404, 34132027, 34499853). This variant is present in population databases (rs562932233, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. ClinVar contains an entry for this variant (Variation ID: 971548). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001247354 SCV002811630 likely pathogenic Nephronophthisis 15 2021-12-23 criteria provided, single submitter clinical testing

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