ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)

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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 RCV003527188 SCV004293837 uncertain significance Hereditary antithrombin deficiency 2023-02-09 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 251 of the SERPINC1 protein (p.Ile251Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of antithrombin III deficiency (PMID: 10997988, 28300866). This variant is also known as I219T. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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