ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu)

dbSNP: rs1657744293
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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 RCV001351166 SCV001545607 uncertain significance Hereditary antithrombin deficiency 2020-03-16 criteria provided, single submitter clinical testing 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SERPINC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glutamic acid at codon 222 of the SERPINC1 protein (p.Val222Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. 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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