ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr)

dbSNP: rs121909557
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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 RCV000019636 SCV004293831 pathogenic Hereditary antithrombin deficiency 2023-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 18020). This variant is also known as Ala382>Thr. This missense change has been observed in individual(s) with antithrombin III deficiency (PMID: 2615648, 3179438, 24684277, 25466846, 28300866). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 414 of the SERPINC1 protein (p.Ala414Thr).
Mayo Clinic Laboratories, Mayo Clinic RCV004791231 SCV005413972 pathogenic not provided 2024-08-27 criteria provided, single submitter clinical testing PP1, PP3, PM1, PM2_moderate, PS4
OMIM RCV000019636 SCV000039934 pathogenic Hereditary antithrombin deficiency 1996-01-01 no assertion criteria provided literature only

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