ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) (rs797044610)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724285 SCV000224131 pathogenic not provided 2014-09-11 criteria provided, single submitter clinical testing
Invitae RCV000173051 SCV000754726 pathogenic Adrenoleukodystrophy 2019-08-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 296 of the ABCD1 protein (p.Tyr296Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in several individuals affected with X-linked adrenoleukodystrophy (PMID: 10190819, 11748843, 15800013, 16087056, 16415970, 21068741, 22479560, 25275259, 26454440, Invitae). ClinVar contains an entry for this variant (Variation ID: 193033). 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. For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197082 SCV001367718 pathogenic CNS disorder 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PM5,PP3. This variant was detected in heterozygous state.

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