ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1154-5T>C

gnomAD frequency: 0.00005  dbSNP: rs375346550
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Thrombosis Variant Curation Expert Panel, ClinGen RCV001513097 SCV004037404 likely benign Hereditary antithrombin deficiency 2023-07-25 reviewed by expert panel curation The NM_000488.4(SERPINC1):c.1154-5T>C variant is an intronic change that has a frequency of 0.03% in South Asians with 11 alleles (gnomAD v2.1.1). No splicing disruption prediction is noted per SpliceAI and varSEAK, but the nucleotide may be moderately conserved. In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: BS1, BP4.
Invitae RCV001513097 SCV001720635 benign Hereditary antithrombin deficiency 2018-07-22 criteria provided, single submitter clinical testing

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