ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)

gnomAD frequency: 0.00001  dbSNP: rs781713688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807104 SCV000947140 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 561 of the RPGRIP1L protein (p.Arg561Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs781713688, ExAC 0.02%). 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: 651693). 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 disruptive. 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 RCV002487731 SCV002783840 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-02-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835971 SCV002085720 uncertain significance Familial aplasia of the vermis 2020-02-12 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733050 SCV005362963 uncertain significance RPGRIP1L-related disorder 2024-09-10 no assertion criteria provided clinical testing The RPGRIP1L c.1681C>T variant is predicted to result in the amino acid substitution p.Arg561Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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