ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.2614G>A (p.Val872Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004090583 SCV003550834 likely benign not specified 2023-01-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052011 SCV005685437 uncertain significance not provided 2024-10-17 criteria provided, single submitter clinical testing The OBSCN c.2614G>A (p.Val872Met) variant, to our knowledge, has not been reported in the medical literature. This variant has been observed on 13/275280 alleles in the general population (gnomAD v.2.1.1). Due to limited information, the clinical significance of this variant is uncertain.

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