ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.752G>A (p.Arg251Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002306030 SCV002599654 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004534046 SCV004116907 uncertain significance RPGRIP1L-related disorder 2023-09-18 criteria provided, single submitter clinical testing The RPGRIP1L c.752G>A variant is predicted to result in the amino acid substitution p.Arg251Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-53720369-C-T). 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 RCV005017200 SCV005643938 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-05-07 criteria provided, single submitter clinical testing

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