ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln)

gnomAD frequency: 0.00001  dbSNP: rs916661298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002480922 SCV002786542 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280358 SCV001467534 uncertain significance Familial aplasia of the vermis 2020-04-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733230 SCV005367593 uncertain significance RPGRIP1L-related disorder 2024-07-05 no assertion criteria provided clinical testing The RPGRIP1L c.788G>A variant is predicted to result in the amino acid substitution p.Arg263Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian 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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