ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824100 SCV000964982 likely pathogenic Adrenoleukodystrophy 2018-07-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 298 of the ABCD1 protein (p.Gly298Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with ABCD1-related conditions (PMID: 10737980, Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. The observation of additional missense substitutions at this codon (p.Gly298Asp and p.Gly298Arg) in affected individuals suggests that this may be a clinically significant residue (PMID: 10480364, 26454440). 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.
Johns Hopkins Genomics,Johns Hopkins University RCV000824100 SCV000992377 uncertain significance Adrenoleukodystrophy 2019-06-10 criteria provided, single submitter clinical testing

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