ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly)

gnomAD frequency: 0.00003  dbSNP: rs372404481
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239818 SCV001412719 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1068 of the RPGRIP1L protein (p.Glu1068Gly). This variant is present in population databases (rs372404481, gnomAD 0.008%). 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: 965380). 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: "Possibly Damaging"; 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.
Fulgent Genetics, Fulgent Genetics RCV002480790 SCV002780711 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034628 SCV005015373 uncertain significance Inborn genetic diseases 2023-11-21 criteria provided, single submitter clinical testing The c.3203A>G (p.E1068G) alteration is located in exon 21 (coding exon 20) of the RPGRIP1L gene. This alteration results from a A to G substitution at nucleotide position 3203, causing the glutamic acid (E) at amino acid position 1068 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001836203 SCV002087510 uncertain significance Familial aplasia of the vermis 2020-11-20 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004528433 SCV004112258 uncertain significance RPGRIP1L-related disorder 2024-04-11 no assertion criteria provided clinical testing The RPGRIP1L c.3203A>G variant is predicted to result in the amino acid substitution p.Glu1068Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0079% 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.

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