ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1154G>A (p.Gly385Asp)

dbSNP: rs878854018
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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 RCV000233293 SCV000284986 uncertain significance Hereditary antithrombin deficiency 2015-11-27 criteria provided, single submitter clinical testing In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant does not alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. This sequence change replaces glycine with aspartic acid at codon 385 of the SERPINC1 protein (p.Gly385Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. It also falls at the first nucleotide of exon 6 of the SERPINC1 coding sequence.

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