ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.995C>T (p.Thr332Ile)

gnomAD frequency: 0.00005  dbSNP: rs567550044
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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 RCV000205675 SCV000261571 uncertain significance Hereditary antithrombin deficiency 2015-10-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs567550044, ExAC 0.02%) but has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change replaces threonine with isoleucine at codon 332 of the SERPINC1 protein (p.Thr332Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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