ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1051C>T (p.His351Tyr)

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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 RCV002595569 SCV003495341 uncertain significance Hereditary antithrombin deficiency 2022-03-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 351 of the SERPINC1 protein (p.His351Tyr). This variant has not been reported in the literature in individuals affected with SERPINC1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Ambry Genetics RCV002588637 SCV003596617 uncertain significance Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing The c.1051C>T (p.H351Y) alteration is located in exon 5 (coding exon 5) of the SERPINC1 gene. This alteration results from a C to T substitution at nucleotide position 1051, causing the histidine (H) at amino acid position 351 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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