ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln)

gnomAD frequency: 0.00001  dbSNP: rs774294043
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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 RCV001101592 SCV005367706 uncertain significance Hereditary antithrombin deficiency 2024-07-03 reviewed by expert panel curation The c.233G>A (NM_000488.3) variant in SERPINC1 is a missense variant predicted to cause substitution of arginine by glutamine at amino acid 78 (p.Arg78Gln). The variant is reported at an allele frequency of 0.00003889 With the highest MAF of 0.0002540 (9/35440) in the South Asian population in gnomAD v2.1.1 meeting BS1 (>0.0002). In summary, based on the evidence available at this time, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for AT Deficiency for SERPINC1: BS1.
Illumina Laboratory Services, Illumina RCV001101592 SCV001258215 uncertain significance Hereditary antithrombin deficiency 2017-04-28 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.

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