ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.562G>A (p.Gly188Arg)

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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 RCV002345072 SCV002649271 uncertain significance Inborn genetic diseases 2018-12-06 criteria provided, single submitter clinical testing The p.G188R variant (also known as c.562G>A), located in coding exon 1 of the ABCD1 gene, results from a G to A substitution at nucleotide position 562. The glycine at codon 188 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096819 SCV003250743 likely benign Adrenoleukodystrophy 2024-08-20 criteria provided, single submitter clinical testing

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