Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000724894 | SCV000230342 | likely pathogenic | not provided | 2015-06-04 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000023536 | SCV000807233 | pathogenic | Larsen-like syndrome, B3GAT3 type | 2017-09-01 | criteria provided, single submitter | clinical testing | This mutation has been previously reported as disease-causing and was found once in our laboratory in a homozygous state in a 5-year-old male with global delays, short stature, skeletal abnormalities, broad thumbs and halluces, joing laxity, bilateral hip dysplasia, multiple dental caries, generalized cortical atrophy, dilation of aortic root and pulmonary artery, inguinal hernia. |
| Labcorp Genetics |
RCV000023536 | SCV002228466 | pathogenic | Larsen-like syndrome, B3GAT3 type | 2022-07-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change affects B3GAT3 function (PMID: 21763480). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 30573). This missense change has been observed in individual(s) with multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (PMID: 21763480). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs387906937, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 277 of the B3GAT3 protein (p.Arg277Gln). |
| Al Jalila Children’s Genomics Center, |
RCV004798745 | SCV005420336 | pathogenic | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | 2024-10-04 | criteria provided, single submitter | research | PM3,PS3,PM2,PP3,PP1 |
| OMIM | RCV000211049 | SCV000044827 | pathogenic | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS | 2014-06-01 | no assertion criteria provided | literature only |