ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.2051_2055delinsCTA (p.Leu684fs)

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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 RCV002510697 SCV002820218 likely pathogenic Lowe syndrome criteria provided, single submitter clinical testing The frameshift insertion p.L684Sfs*42 in OCRL (NM_000276.3) has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. The p.L684Sfs*42 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000Genomes. This variant is predicted to cause loss of normal protein function through protein truncation.The frame shifted sequencecontinues 42 residues until a stop codon is reached.The OCRL gene in intolerant to loss of function (pLI=1). For these reasons, this variant has been classified asLikely Pathogenic.

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