ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004560395 SCV005047107 uncertain significance Imerslund-Grasbeck syndrome type 1 2024-04-03 criteria provided, single submitter clinical testing A CUBN c.6905C>T (p.Pro2302Leu) variant was identified. To our knowledge, this variant has not been described in the literature. It is observed on 2/251,276 alleles in the general population (gnomAD v.2.1.1) indicating that this is not a common variant. Computational predictors are uncertain as to the impact of this variant on CUBN function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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