ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.914C>A (p.Pro305His)

gnomAD frequency: 0.00001  dbSNP: rs549991084
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Thrombosis Variant Curation Expert Panel, ClinGen RCV000866943 SCV004037403 benign Hereditary antithrombin deficiency 2023-07-25 reviewed by expert panel curation The c.914C>A (NM_000488.3) variant in SERPINC1 is a missense variant predicted to cause substitution of proline by histidine at amino acid 305 (p.Pro305His). The highest population minor allele frequency in gnomAD v2.1.1 is 0.008133 (249/30616 alleles) in the South Asian population, which is higher than the ClinGen SERPINC1 threshold ([>0.002]) for BA1, and therefore meets this criterion (BA1). This variant has been observed in nine individuals, of Indian heritage, with normal normal antithrombin levels, five of which showed normal levels with repeat testing (BS2; PMID: 27161325). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: BA1, BS2.
Eurofins Ntd Llc (ga) RCV000733370 SCV000861434 likely benign not specified 2018-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866943 SCV001008113 benign Hereditary antithrombin deficiency 2023-09-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000866943 SCV001256092 benign 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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