ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.6391G>T (p.Gly2131Cys)

gnomAD frequency: 0.00006  dbSNP: rs529561467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913803 SCV001058959 likely benign not provided 2018-07-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751812 SCV005366805 uncertain significance OBSCN-related disorder 2024-07-04 no assertion criteria provided clinical testing The OBSCN c.6391G>T variant is predicted to result in the amino acid substitution p.Gly2131Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.34% of alleles in individuals of East Asian descent in gnomAD, which may be too common to be causative of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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