ClinVar Miner

Submissions for variant NM_000408.5(GPD2):c.223A>G (p.Ile75Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555988 SCV005045117 uncertain significance Type 2 diabetes mellitus 2024-02-21 criteria provided, single submitter clinical testing The GPD2 c.223A>G (p.Ile75Val) variant, to our knowledge, has not been reported in the medical literature. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.16% in the European non-Finnish population. Computational predictors are uncertain as to the impact of this variant on GPD2 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.
CeGaT Center for Human Genetics Tuebingen RCV004585106 SCV005074390 benign not provided 2024-06-01 criteria provided, single submitter clinical testing GPD2: BP4, BS1, BS2

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