ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)

dbSNP: rs121909585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000018591 SCV001522813 uncertain significance Atypical hemolytic-uremic syndrome with C3 anomaly 2019-12-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002513105 SCV003443806 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects C3 function (PMID: 18796626, 25608561). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 17062). This variant is also known as D1093N. This missense change has been observed in individual(s) with clinical features of atypical hemolytic uremic syndrome (PMID: 18796626, 25608561, 33456446, 34169201; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1115 of the C3 protein (p.Asp1115Asn).
OMIM RCV000018591 SCV000038874 risk factor Atypical hemolytic-uremic syndrome with C3 anomaly 2008-12-15 no assertion criteria provided literature only

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