ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.11041G>A (p.Gly3681Arg)

dbSNP: rs200870329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000770 SCV001157821 likely benign not specified 2018-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001000770 SCV002692771 uncertain significance not specified 2021-06-22 criteria provided, single submitter clinical testing The p.G3252R variant (also known as c.9754G>A), located in coding exon 36 of the OBSCN gene, results from a G to A substitution at nucleotide position 9754. The glycine at codon 3252 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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