ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His)

dbSNP: rs1657913203
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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 RCV001298024 SCV001487064 uncertain significance Hereditary antithrombin deficiency 2020-03-06 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. 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. This variant has been observed in individual(s) with clinical features of antithrombin deficiency (PMID: 28300866). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 95 of the SERPINC1 protein (p.Tyr95His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine.

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