ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213020 SCV001384633 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 550 of the RPGRIP1L protein (p.Gln550Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs772900011, ExAC 0.006%). This variant has been observed to segregate with Jourbet syndrome in families (PMID: 22693042, 29620724). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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