ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.347del (p.Lys116fs)

dbSNP: rs751277203
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001283852 SCV001727092 benign Nephronophthisis 15 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001797168 SCV002038650 benign not provided 2021-12-16 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283852 SCV001469288 likely pathogenic Nephronophthisis 15 2020-10-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004753260 SCV005347059 likely pathogenic CEP164-related disorder 2024-07-15 no assertion criteria provided clinical testing The CEP164 c.347delA variant is predicted to result in a frameshift and premature protein termination (p.Lys116Argfs*22). To our knowledge, this variant has not been reported in the literature. This variant is reported in 5.9% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in CEP164 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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