ClinVar Miner

Submissions for variant NM_000065.5(C6):c.1219C>T (p.Arg407Cys)

dbSNP: rs147449601
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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 RCV001877662 SCV002139306 uncertain significance not provided 2021-03-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 407 of the C6 protein (p.Arg407Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with C6-related conditions. This variant is present in population databases (rs147449601, ExAC 0.009%).
Fulgent Genetics, Fulgent Genetics RCV002478201 SCV002785951 uncertain significance Complement component 6 deficiency 2021-08-25 criteria provided, single submitter clinical testing

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