ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.199A>G (p.Met67Val)

gnomAD frequency: 0.00002  dbSNP: rs1057114018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990972 SCV001142046 uncertain significance Adrenoleukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001847123 SCV002104463 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000990972 SCV005800188 uncertain significance Adrenoleukodystrophy 2024-07-19 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 67 of the ABCD1 protein (p.Met67Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 804103). 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 not expected to disrupt ABCD1 protein function with a negative predictive value of 95%. 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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