ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln)

gnomAD frequency: 0.00001  dbSNP: rs758759988
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226277 SCV001398585 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 355 of the RPGRIP1L protein (p.Arg355Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 953913). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002484229 SCV002778714 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-10-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828807 SCV002085743 uncertain significance Familial aplasia of the vermis 2020-07-22 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733191 SCV005347701 uncertain significance RPGRIP1L-related disorder 2024-07-03 no assertion criteria provided clinical testing The RPGRIP1L c.1064G>A variant is predicted to result in the amino acid substitution p.Arg355Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.