ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) (rs143863631)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726350 SCV000343997 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765294 SCV000896549 uncertain significance COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000726350 SCV000566584 uncertain significance not provided 2018-10-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RPGRIP1L gene. The E604K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E604K variant is observed in 19/8640 (0.2%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E604K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals; however, Lysine is observed at this position in evolution. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000303891 SCV000397814 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361003 SCV000397815 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264423 SCV000397816 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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