ClinVar Miner

Submissions for variant NM_006899.5(IDH3B):c.74G>A (p.Gly25Asp)

gnomAD frequency: 0.00266  dbSNP: rs113021673
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756265 SCV000884022 likely benign not provided 2017-06-07 criteria provided, single submitter clinical testing The IDH3B c.74G>A;p.Gly25Asp variant (rs113021673) is listed in the Exome Variant Server with an allele frequency of 0.7944 percent (35/4371 alleles) in the African American population and in the Genome Aggregation Database with an allele frequency of 0.9083 percent (218/24000 alleles, 4 homozygotes) in the African population. The amino acid at this position is weakly conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. Considering available information, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000756265 SCV001046220 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000756265 SCV005207245 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000756265 SCV002034639 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000756265 SCV002037863 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003908065 SCV004725026 benign IDH3B-related disorder 2019-08-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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