ClinVar Miner

Submissions for variant NM_001711.6(BGN):c.238G>A (p.Gly80Ser)

dbSNP: rs886037825
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004992138 SCV005545441 uncertain significance Cardiovascular phenotype 2024-08-21 criteria provided, single submitter clinical testing The c.238G>A variant (also known as p.G80S), located in coding exon 1 of the BGN gene, results from a G to A substitution at nucleotide position 238. The glycine at codon 80 is replaced by serine, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 1, which makes it likely to have some effect on normal mRNA splicing. This variant was reported hemizygous in male proband with some features consistent with Meester-Loeys syndrome, and RNA studies indicated that this alteration resulted in abnormal splicing (Meester JA et al. Genet Med, 2017 Apr;19:386-395; Meester JAN et al. NPJ Genom Med, 2024 Mar;9:22). This nucleotide position is highly conserved in available vertebrate species. This amino acid position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. In addition, as a missense substitution this is predicted to be inconclusive by in silico analysis. However, loss of function of BGN has not been established as a mechanism of disease. Based on the available evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005044518 SCV005683066 likely pathogenic X-linked spondyloepimetaphyseal dysplasia; Meester-Loeys syndrome 2024-04-01 criteria provided, single submitter clinical testing
Centre of Medical Genetics, University of Antwerp RCV000256213 SCV000266572 pathogenic Familial thoracic aortic aneurysm and aortic dissection no assertion criteria provided research
OMIM RCV000412486 SCV000490225 pathogenic Meester-Loeys syndrome 2017-05-10 no assertion criteria provided literature only

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