ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)

dbSNP: rs1559155954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine RCV000778119 SCV000854648 likely pathogenic 3M syndrome 1 2015-01-04 no assertion criteria provided clinical testing A 5 year-old-Turkish female 3-M syndrome patient was homozygous for c.1125dupT (p.Glu376Ter) variant in OBSL1. There was parental consanguinity. Patient presented the characteristic features of 3-M syndrome. The c.1125dupT (p.Glu376Ter) variant meets our criteria to be classified as likely pathogenic.
Pediatric Endocrinology, Ankara Etlik City Hospital RCV003128253 SCV003804430 pathogenic 3M syndrome 2 no assertion criteria provided clinical testing This null variant (nonsense) is predicted to cause nonsense mediated decay and loss-of-function variants in OBSL1 are known to be pathogenic. Allele frequency is extremely low and it was not found in gnomAD genomes. The identified variant has been reported to be associated with 3M syndrome previously. Furthermore, this variant is classified as pathogenic based on ACMG variant classification guidelines.

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