ClinVar Miner

Submissions for variant NM_018676.4(THSD1):c.1021+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003153218 SCV003842121 uncertain significance Aneurysm, intracranial berry, 12 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Splice variant was predicted to result in a trucated protein by alternate splicing. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.74). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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