ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp)

gnomAD frequency: 0.00001  dbSNP: rs769611947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073369 SCV001238910 uncertain significance Retinal dystrophy 2019-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482150 SCV002780435 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554657 SCV003280806 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 204 of the RPGRIP1L protein (p.Ala204Asp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 865839). 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: "Probably 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.

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