ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) (rs782293513)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798341 SCV000937954 likely pathogenic Adrenoleukodystrophy 2019-05-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 170 of the ABCD1 protein (p.Ala170Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant has been observed to segregate with X-linked adrenoleukodystrophy (X-ALD) in a family (Invitae). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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