ClinVar Miner

Submissions for variant NM_000587.4(C7):c.898G>A (p.Gly300Arg)

gnomAD frequency: 0.00001  dbSNP: rs780751557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002017382 SCV002287592 uncertain significance not provided 2021-10-12 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with C7-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with arginine at codon 300 of the C7 protein (p.Gly300Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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