ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.383G>C (p.Arg128Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002355439 SCV002623573 uncertain significance Inborn genetic diseases 2018-01-31 criteria provided, single submitter clinical testing The p.R128P variant (also known as c.383G>C), located in coding exon 1 of the ABCD1 gene, results from a G to C substitution at nucleotide position 383. The arginine at codon 128 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094394 SCV003440914 likely benign Adrenoleukodystrophy 2024-03-17 criteria provided, single submitter clinical testing

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