ClinVar Miner

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

dbSNP: rs1603232243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824100 SCV000964982 likely pathogenic Adrenoleukodystrophy 2021-06-01 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. 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). 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. This variant has been observed in several individuals affected with ABCD1-related conditions (PMID: 10737980, Invitae). ClinVar contains an entry for this variant (Variation ID: 665751). This variant is not present in population databases (ExAC no frequency). 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.
Genome-Nilou Lab RCV000824100 SCV002045762 likely pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000824100 SCV000992377 uncertain significance Adrenoleukodystrophy 2019-06-10 flagged submission clinical testing

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