ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1128G>A (p.Lys376=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388708 SCV004100433 uncertain significance Retinitis pigmentosa 20 criteria provided, single submitter clinical testing The synonymous variant p.K376= in RPE65 (NM_000329.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.K376= variant is observed in 1/30,604 (0.0033%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. It is present at the splice junction and is predicted to disrupt splicing by 3 of 4 splice site algorithms. The nucleotide c.1128 in RPE65 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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