ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)

gnomAD frequency: 0.00001  dbSNP: rs555792734
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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 RCV000807826 SCV000947901 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2024-12-17 criteria provided, single submitter clinical testing This sequence change affects codon 526 of the ABCD4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABCD4 protein. This variant is present in population databases (rs555792734, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ABCD4-related conditions. ClinVar contains an entry for this variant (Variation ID: 652295). 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.
GeneDx RCV004761801 SCV005373314 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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