ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1820T>C (p.Phe607Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003109923 SCV003761698 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005011202 SCV005642091 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-02-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538883 SCV004729273 uncertain significance RPGRIP1L-related disorder 2023-11-27 no assertion criteria provided clinical testing The RPGRIP1L c.1820T>C variant is predicted to result in the amino acid substitution p.Phe607Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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