ClinVar Miner

Submissions for variant NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)

dbSNP: rs387906937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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.
Invitae 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).
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

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