ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.408+4C>T

gnomAD frequency: 0.00001  dbSNP: rs201551398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Thrombosis Variant Curation Expert Panel, ClinGen RCV001101590 SCV004037385 likely benign Hereditary antithrombin deficiency 2023-07-25 reviewed by expert panel curation The NM_000488.4(SERPINC1):c.408+4C>T variant is an intronic variant reported at a POPMAX FAF of 0.0003794 in the South Asian population (18/30616 alleles) meeting BS1 criteria. SpliceAI and VarSEAK predict no splicing impact for this variant; however the nucleotide may be conserved based on PhyloP and PhastCons scores (BP4). 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 AT Deficiency for SERPINC1: BS1, BP4.
Illumina Laboratory Services, Illumina RCV001101590 SCV001258213 uncertain significance Hereditary antithrombin deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV001101590 SCV002785974 uncertain significance Hereditary antithrombin deficiency 2021-08-23 criteria provided, single submitter clinical testing

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