Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633490 | SCV000754724 | pathogenic | Adrenoleukodystrophy | 2021-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 511 of the ABCD1 protein (p.Cys511Tyr). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 528344). This missense change has been observed in individual(s) with clinical features of ABCD1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. |
Revvity Omics, |
RCV003139960 | SCV003824376 | uncertain significance | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing |