ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn)

dbSNP: rs1657909645
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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 RCV001045955 SCV001209832 pathogenic Hereditary antithrombin deficiency 2019-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect SERPINC1 protein function (PMID: 11686319). This variant has been observed in individual(s) with antithrombin III deficiency (PMID: 11686319, 28607330, Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as S82N in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 114 of the SERPINC1 protein (p.Ser114Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.

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