ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1254C>T (p.Thr418=)

gnomAD frequency: 0.00003  dbSNP: rs559277597
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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 RCV001483253 SCV005061627 likely benign Hereditary antithrombin deficiency 2024-05-09 reviewed by expert panel curation The c.1254C>T (NM_000488.4) variant in SERPINC1 does not code for a different amino acid (p.Thr418=). SpliceAI predicts no splicing impact for this variant meeting BP4. The variant is not predicted to cause a splicing impact and the nucleotide is weakly/moderately conserved with a PhyloP score of -1.569 and a PhastCons score of 0.013 meeting BP7 criteria (PhyloP < 0.1). 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: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001483253 SCV001687638 likely benign Hereditary antithrombin deficiency 2025-02-03 criteria provided, single submitter clinical testing

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