ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1752+2T>C

gnomAD frequency: 0.00001  dbSNP: rs151116417
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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 RCV000697468 SCV000826080 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2021-08-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 18 of the ABCD4 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs151116417, ExAC 0.006%). Disruption of this splice site has been observed in individual(s) with clinical features of ABCD4-related conditions (Invitae). 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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