ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1610T>C (p.Met537Thr)

gnomAD frequency: 0.00001  dbSNP: rs752785301
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 RCV002036236 SCV002310974 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 537 of the RPGRIP1L protein (p.Met537Thr). This variant is present in population databases (rs752785301, gnomAD 0.006%). 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: 1522752). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Ambry Genetics RCV002550469 SCV003529698 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.1610T>C (p.M537T) alteration is located in exon 14 (coding exon 13) of the RPGRIP1L gene. This alteration results from a T to C substitution at nucleotide position 1610, causing the methionine (M) at amino acid position 537 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005017097 SCV005642102 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-06-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543686 SCV004785690 uncertain significance RPGRIP1L-related disorder 2024-02-14 no assertion criteria provided clinical testing The RPGRIP1L c.1610T>C variant is predicted to result in the amino acid substitution p.Met537Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) 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.