ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)

gnomAD frequency: 0.00002  dbSNP: rs371028848
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002504411 SCV002815873 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542955 SCV002953799 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 535 of the RPGRIP1L protein (p.Arg535His). This variant is present in population databases (rs371028848, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 992033). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RPGRIP1L protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004538557 SCV004120511 uncertain significance RPGRIP1L-related disorder 2022-11-23 criteria provided, single submitter clinical testing The RPGRIP1L c.1604G>A variant is predicted to result in the amino acid substitution p.Arg535His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.075% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-53690479-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001280346 SCV001467522 uncertain significance Familial aplasia of the vermis 2020-04-24 no assertion criteria provided clinical testing

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