ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro)

dbSNP: rs121909548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000019623 SCV004293830 pathogenic Hereditary antithrombin deficiency 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 416 of the SERPINC1 protein (p.Ala416Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with antithrombin III deficiency (PMID: 2093312, 2776881, 24583439, 27838551, 33725558). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Ala384Pro. ClinVar contains an entry for this variant (Variation ID: 18007). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SERPINC1 protein function. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003886364 SCV004704294 likely pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing SERPINC1: PM1, PM2, PP1:Moderate, PS4:Moderate, PP4
OMIM RCV000019623 SCV000039921 pathogenic Hereditary antithrombin deficiency 1990-08-15 no assertion criteria provided literature only

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