ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)

gnomAD frequency: 0.00004  dbSNP: rs374098422
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813896 SCV000954278 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-11-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 629 of the RPGRIP1L protein (p.Pro629Leu). This variant is present in population databases (rs374098422, 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: 657315). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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 RCV002487780 SCV002790761 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2022-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892741 SCV004717478 uncertain significance RPGRIP1L-related condition 2023-11-08 criteria provided, single submitter clinical testing The RPGRIP1L c.1886C>T variant is predicted to result in the amino acid substitution p.Pro629Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-53686713-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001825633 SCV002085715 uncertain significance Familial aplasia of the vermis 2020-09-15 no assertion criteria provided clinical testing

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