Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV001269927 | SCV001450292 | pathogenic | not provided | 2015-08-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001860107 | SCV002242629 | pathogenic | Androgen resistance syndrome; Kennedy disease | 2021-09-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asn706 amino acid residue in AR. Other variant(s) that disrupt this residue have been observed in individuals with AR-related conditions (PMID: 11744994, 11788645), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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"). ClinVar contains an entry for this variant (Variation ID: 492789). This variant is also known as p.Asn705Ser. This missense change has been observed in individual(s) with X-linked complete androgen insensitivity syndrome (PMID: 1480178, 31012339). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 706 of the AR protein (p.Asn706Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. |
Clinical Molecular Genetics Laboratory, |
RCV000583716 | SCV000692154 | pathogenic | Androgen resistance syndrome | 2001-11-16 | no assertion criteria provided | clinical testing | |
Human Developmental Genetics, |
RCV000583716 | SCV001787098 | pathogenic | Androgen resistance syndrome | 2021-08-17 | no assertion criteria provided | research |