ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.748C>T (p.Leu250Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528571 SCV004105745 uncertain significance RPGRIP1L-related disorder 2022-11-17 criteria provided, single submitter clinical testing The RPGRIP1L c.748C>T variant is predicted to result in the amino acid substitution p.Leu250Phe. 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 (http://gnomad.broadinstitute.org/variant/16-53720373-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005021943 SCV005643940 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-06-17 criteria provided, single submitter clinical testing

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