ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) (rs398123105)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723625 SCV000109787 pathogenic not provided 2013-04-30 criteria provided, single submitter clinical testing
Invitae RCV000077958 SCV000629992 pathogenic Adrenoleukodystrophy 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 560 of the ABCD1 protein (p.Pro560Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (rs398123105, ExAC no frequency). This variant has been reported in many families affected with X-linked adrenoleukodystrophy (PMID: 7717396, 8651290, 20661612, 21700483, 23566833, 24719134). ClinVar contains an entry for this variant (Variation ID: 92320). 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. For these reasons, this variant has been classified as Pathogenic.

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