ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.816+3G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen RCV003989274 SCV004805872 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2024-03-15 reviewed by expert panel curation The NM_001114753.3: c.816+3G>T variant in ENG is an intronic variant located in intron 6. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). The computational splicing predictor SpliceAI gives a score of 0.03 for donor loss suggesting that the variant has no impact on splicing (BP4). Additionally, this variant has been observed in 1 patient with an alternate molecular basis for disease (patient also carries a likely pathogenic/pathogenic ACVRL1 variant) (BP5; Internal lab contributors). In summary, this variant meets the criteria to be classified as likely benign for autosomal dominant hereditary hemorrhagic telangiectasia based on the ACMG/AMP criteria applied, as specified by the ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel: BP4, BP5, PM2_Supporting (specification version 1.0.0; 1/4/2024).

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