ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)

dbSNP: rs1569541011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710398 SCV000840610 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000710398 SCV001985454 uncertain significance not provided 2020-05-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001800863 SCV002045791 uncertain significance Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001800863 SCV002298194 pathogenic Adrenoleukodystrophy 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 413 of the ABCD1 protein (p.Ala413Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with adrenoleukodystrophy (Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 585353). 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. For these reasons, this variant has been classified as Pathogenic.

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