ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe)

dbSNP: rs1603236020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000856679 SCV000999225 likely pathogenic Adrenoleukodystrophy 2019-05-22 criteria provided, single submitter clinical testing
Invitae RCV000856679 SCV003443998 likely pathogenic Adrenoleukodystrophy 2023-08-24 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCD1 protein function. This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 656 of the ABCD1 protein (p.Ser656Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with X-linked adrenoleukodystrophy (PMID: 15811009). ClinVar contains an entry for this variant (Variation ID: 694632). Studies have shown that this missense change alters ABCD1 gene expression (PMID: 15811009). 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.

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