ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283977 SCV002573263 likely pathogenic Fanconi anemia complementation group D2 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense) is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV002283977 SCV004196710 likely pathogenic Fanconi anemia complementation group D2 2023-10-24 criteria provided, single submitter clinical testing

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