ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1997A>C (p.Tyr666Ser)

dbSNP: rs2091775035
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918090 SCV002177083 uncertain significance Adrenoleukodystrophy 2021-09-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with adrenoleukodystrophy (PMID: 15800013). 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"). 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. This sequence change replaces tyrosine with serine at codon 666 of the ABCD1 protein (p.Tyr666Ser). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and serine.

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