ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)

dbSNP: rs782334088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044072 SCV001207846 uncertain significance Adrenoleukodystrophy 2019-12-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ABCD1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces arginine with serine at codon 285 of the ABCD1 protein (p.Arg285Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine.
Revvity Omics, Revvity RCV003141962 SCV003822357 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing

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