ClinVar Miner

Submissions for variant NM_000326.5(RLBP1):c.141G>A (p.Lys47=)

gnomAD frequency: 0.00001  dbSNP: rs766278489
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513030 SCV003443028 pathogenic not provided 2023-07-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 13099). For these reasons, this variant has been classified as Pathogenic. 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. This variant is also known as 324G->A. This variant has been observed in individuals with rod-cone dystrophy (PMID: 11868161). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs766278489, gnomAD 0.002%). This sequence change affects codon 47 of the RLBP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RLBP1 protein. This variant also falls at the last nucleotide of exon 4, which is part of the consensus splice site for this exon.
OMIM RCV000013976 SCV000034223 pathogenic Newfoundland cone-rod dystrophy 2002-04-01 no assertion criteria provided literature only
OMIM RCV000013977 SCV000034224 pathogenic Retinitis punctata albescens 2002-04-01 no assertion criteria provided literature only

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