ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) (rs574462207)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239090 SCV001411937 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-11-07 criteria provided, single submitter clinical testing This sequence change affects codon 188 of the RPGRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPGRIP1 protein. This variant is present in population databases (rs574462207, ExAC 0.003%). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 28714225). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 427869). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 28714225). 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.
Rui Chen Lab,Baylor College of Medicine RCV000515682 SCV000579426 pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research

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