ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.1209+2_1209+3insA

gnomAD frequency: 0.00001  dbSNP: rs774461310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803965 SCV000943853 uncertain significance Polyglucosan body myopathy type 1 2022-08-22 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the RBCK1 gene. It does not directly change the encoded amino acid sequence of the RBCK1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs774461310, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 649108). 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 create or strengthen a 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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