Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756211 | SCV000883954 | likely pathogenic | not provided | 2018-05-13 | criteria provided, single submitter | clinical testing | The GLMN: p.Arg574Ter variant (rs751408583) was reported in one patient with glomuvenous malformation (Brouillard 2013). This variant is listed in the Genome Aggregation Database (gnomAD) identified on a single chromosome out of 245,592. This variant results in a premature termination codon in the last exon of the GLMN gene. While this may not lead to nonsense-mediated decay, it is expected to create a truncated protein product. Nonsense variants in GLMN are a common mechanism of disease. Based on the above, the p.Arg574Ter variant is considered to be likely pathogenic. |