ClinVar Miner

Submissions for variant NM_053274.3(GLMN):c.1720C>T (p.Arg574Ter)

dbSNP: rs751408583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, 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.

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