ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)

gnomAD frequency: 0.00003  dbSNP: rs886052093
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332245 SCV000397760 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389095 SCV000397761 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292527 SCV000397762 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734008 SCV000862117 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV001859902 SCV002179237 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-10-13 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 1121 of the RPGRIP1L protein (p.Pro1121Leu). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 319650). 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 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.

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