ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr)

gnomAD frequency: 0.00001  dbSNP: rs749510661
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232555 SCV000284989 uncertain significance Hereditary antithrombin deficiency 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 239 of the SERPINC1 protein (p.Ile239Thr). This variant is present in population databases (rs749510661, gnomAD 0.04%). This missense change has been observed in individual(s) with antithrombin deficiency (PMID: 28743742). This variant is also known as I207T. ClinVar contains an entry for this variant (Variation ID: 237851). 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) performed at Invitae indicates that this missense variant is not expected to disrupt SERPINC1 protein function. Experimental studies have shown that this missense change affects SERPINC1 function (PMID: 28743742). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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