ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1602G>A (p.Gly534=)

gnomAD frequency: 0.00005  dbSNP: rs773214157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537877 SCV000629011 uncertain significance Lowe syndrome 2017-07-30 criteria provided, single submitter clinical testing This sequence change affects codon 534 of the OCRL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the OCRL protein. This variant also falls at the last nucleotide of exon 15 of the OCRL coding sequence, which is part of the consensus splice site for this exon. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). This variant is present in population databases (rs773214157, ExAC 0.002%). This variant has not been reported in the literature in individuals with OCRL-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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