Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000074487 | SCV000245504 | pathogenic | Schaaf-Yang syndrome | 2013-10-04 | criteria provided, single submitter | clinical testing | This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 19-year-old male with intellectual disability, delayed puberty, autism, hearing loss, hypertonia, epilepsy, dysmorphic features, short stature, microcephaly |
Gene |
RCV000285006 | SCV000329944 | pathogenic | not provided | 2023-04-20 | criteria provided, single submitter | clinical testing | Please note, this variant is referred to as p.Gln1024* in this publication (Schaaf et al., 2013), which may be a typographic error; Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation, as the last 208 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 24076603, 26633545, 24661356) |
OMIM | RCV000074487 | SCV000108572 | pathogenic | Schaaf-Yang syndrome | 2013-11-01 | no assertion criteria provided | literature only |