ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.102G>A (p.Lys34=) (rs1556313552)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990803 SCV001141844 likely pathogenic Retinitis pigmentosa 15 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001051097 SCV001215230 likely pathogenic not provided 2019-12-03 criteria provided, single submitter clinical testing This sequence change affects codon 34 of the RP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RP2 protein. This variant also falls at the last nucleotide of exon 1 of the RP2 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Leber congenital amaurosis or retinitis pigmentosa (PMID: 28714225, Invitae). ClinVar contains an entry for this variant (Variation ID: 427872). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 28714225). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Rui Chen Lab,Baylor College of Medicine RCV000515686 SCV000579429 likely pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research

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