Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Medicine |
RCV000736087 | SCV000864353 | likely pathogenic | Mental retardation, X-linked 1 | 2017-12-11 | criteria provided, single submitter | clinical testing | PVS1, PM2; This variant leads to a stop codon at amino acid 1273 (of 1488 in the full length protein), likely leading to a null protein [ACMG: PVS1]. Multiple loss of function pathogenic variants have been described, even farther into the protein, consistent with this variant likely being pathogenic. This variant is not present in population databases [ACMG: PM2]. This variant is therefore classified as likely pathogenic. |