ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser)

gnomAD frequency: 0.00002  dbSNP: rs565152814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002541701 SCV003513676 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 708 of the RPGRIP1L protein (p.Gly708Ser). This variant is present in population databases (rs565152814, gnomAD 0.1%). 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: 991023). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV005012711 SCV005642076 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-06-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279159 SCV001466241 uncertain significance Familial aplasia of the vermis 2020-09-30 no assertion criteria provided clinical testing

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