ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) (rs146925098)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489212 SCV000576958 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing The L57F variant in the RPGRIP1L gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L57F variant is observed in 19/8654 (0.22%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The L57F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L57F as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000298218 SCV000397857 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353091 SCV000397858 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262935 SCV000397859 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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