ClinVar Miner

Submissions for variant NM_000064.4(C3):c.28C>A (p.Leu10Met)

gnomAD frequency: 0.00001  dbSNP: rs756577495
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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 RCV001373123 SCV001569827 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. ClinVar contains an entry for this variant (Variation ID: 1063298). This variant has not been reported in the literature in individuals affected with C3-related conditions. This variant is present in population databases (rs756577495, gnomAD 0.04%). This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 10 of the C3 protein (p.Leu10Met).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294456 SCV002587660 uncertain significance Atypical hemolytic-uremic syndrome 2020-03-01 criteria provided, single submitter clinical testing

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