ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.946A>T (p.Ile316Phe)

gnomAD frequency: 0.00001  dbSNP: rs1657686098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041950 SCV001205604 uncertain significance Hereditary antithrombin deficiency 2019-03-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 316 of the SERPINC1 protein (p.Ile316Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SERPINC1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004963013 SCV005493973 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.946A>T (p.I316F) alteration is located in exon 5 (coding exon 5) of the SERPINC1 gene. This alteration results from a A to T substitution at nucleotide position 946, causing the isoleucine (I) at amino acid position 316 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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