ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1350G>A (p.Gln450=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003796651 SCV004583686 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-09 criteria provided, single submitter clinical testing This sequence change affects codon 450 of the RPGRIP1L mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPGRIP1L protein. This variant also falls at the last nucleotide of exon 11, which is part of the consensus splice site for this exon. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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