Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804161 | SCV000944057 | pathogenic | Androgen resistance syndrome; Kennedy disease | 2023-01-10 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this premature translational stop signal affects AR function (PMID: 10690872). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 649268). This variant is also known as c.2540_2541insA and frameshift at codon 848. This premature translational stop signal has been observed in individual(s) with androgen insensitivity syndrome (PMID: 10690872, 27899157, 28456808; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn849Lysfs*32) in the AR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 72 amino acid(s) of the AR protein. |