ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.399A>C (p.Gln133His)

dbSNP: rs878854019
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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 RCV000226993 SCV000284987 uncertain significance Hereditary antithrombin deficiency 2015-11-13 criteria provided, single submitter clinical testing In summary, this is a rare missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Probably Damaging"; Align-GVGD: "Class C0"). A different variant (c.397C>A) giving rise to a missense change at the same codon (p.Gln133Lys) has been reported in a patient with family history of thrombosis (PMID: 7947234). This individual reportedly also had marked reduction in antithrombin activity. These observations indicate that this residue may be critical for protein function. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. This sequence change replaces glutamine with histidine at codon 133 of the SERPINC1 protein (p.Gln133His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.

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