ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) (rs377402117)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000284914 SCV000397739 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321256 SCV000397740 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385189 SCV000397741 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000820913 SCV000961650 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 1280 of the RPGRIP1L protein (p.Phe1280Ser). The phenylalanine residue is weakly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs377402117, ExAC 0.07%). This variant has not been reported in the literature in individuals with RPGRIP1L-related disease. ClinVar contains an entry for this variant (Variation ID: 319647). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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