ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2078T>C (p.Ile693Thr)

gnomAD frequency: 0.00001  dbSNP: rs766197081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943114 SCV002183398 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 693 of the RPGRIP1L protein (p.Ile693Thr). This variant is present in population databases (rs766197081, 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: 1412030). 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 C25"). 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 RCV005006214 SCV005642078 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-04-07 criteria provided, single submitter clinical testing

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