ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.900G>A (p.Glu300=)

dbSNP: rs1569540743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000012068 SCV004298771 likely pathogenic Adrenoleukodystrophy 2023-12-02 criteria provided, single submitter clinical testing This sequence change affects codon 300 of the ABCD1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABCD1 protein. This variant also falls at the last nucleotide of exon 1, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with adrenoleukodystrophy (PMID: 11810273). ClinVar contains an entry for this variant (Variation ID: 11316). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000012068 SCV000032302 pathogenic Adrenoleukodystrophy 2001-12-01 no assertion criteria provided literature only

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