ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)

dbSNP: rs1603231848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990973 SCV001142047 pathogenic Adrenoleukodystrophy 2019-05-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003489996 SCV004238406 likely pathogenic not provided 2023-02-22 criteria provided, single submitter clinical testing
Invitae RCV000990973 SCV004298758 likely pathogenic Adrenoleukodystrophy 2023-06-02 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 804104). This missense change has been observed in individual(s) with adrenoleukodystrophy (PMID: 12175782). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 114 of the ABCD1 protein (p.Leu114Pro).

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