ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.1045C>T (p.Leu349Phe)

gnomAD frequency: 0.00006  dbSNP: rs141075266
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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 RCV001926702 SCV002200196 likely benign not provided 2024-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892966 SCV004712162 uncertain significance SERPING1-related disorder 2023-12-26 no assertion criteria provided clinical testing The SERPING1 c.1045C>T variant is predicted to result in the amino acid substitution p.Leu349Phe. This variant along with a second potentially causative variant was reported in two siblings with hereditary angioedema, with heterozygous parents being unaffected (Ponard et al. 2019. PubMed ID: 31517426). This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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