ClinVar Miner

Submissions for variant NM_000062.2(SERPING1):c.5C>T (p.Ala2Val) (rs185342631)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768088 SCV000898969 uncertain significance Hereditary angioedema type 1; Complement component 4, partial deficiency of 2018-01-26 criteria provided, single submitter clinical testing SERPING1 NM_000062.2 exon 2 p.Ala2Val (c.5C>T): This variant has been reported in the literature in 2 individuals with hereditary angioedema, segregating with disease in at least 2 affected family members (Gosswein 2008 PMID:18758157). However, this variant is present in 0.3% (84/23494) of South Asian alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs185342631). This variant is present in ClinVar (Variation ID:305016). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000404962 SCV000372548 likely benign Hereditary Angioedema 2016-06-14 criteria provided, single submitter clinical testing

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