ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1344C>T (p.Thr448=)

gnomAD frequency: 0.00086  dbSNP: rs150934856
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000965416 SCV001112683 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503030 SCV002805258 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-09-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526052 SCV005040399 likely benign not specified 2024-03-05 criteria provided, single submitter clinical testing Variant summary: C3 c.1344C>T alters a conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0003 in 251358 control chromosomes, predominantly at a frequency of 0.0035 within the African or African-American subpopulation in the gnomAD database. To our knowledge, no occurrence of c.1344C>T in individuals affected with C3 related diseases and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 783814). Based on the evidence outlined above, the variant was classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV000965416 SCV005312461 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003916184 SCV004731480 likely benign C3-related disorder 2019-05-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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