Submissions for variant NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter)

dbSNP: rs1436996181

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	RCV001328526	SCV001438408	pathogenic	Short stature; Abnormality of the skeletal system; Abnormal facial shape; Abnormality of the dentition	2020-09-01	criteria provided, single submitter	research
GeneDx	RCV004727056	SCV005332396	uncertain significance	not provided	2023-01-19	criteria provided, single submitter	clinical testing	Identified in four affected relatives with severe short stature, skeletal abnormalities, distinctive facial features, and dental anomalies (Lin et al., 2021); Functional studies suggest a damaging effect (disruption on BMP signaling in vitro) (Lin et al., 2021); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 33308444)
OMIM	RCV001291537	SCV001480038	pathogenic	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	2021-02-15	no assertion criteria provided	literature only