ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.1223G>A (p.Gly408Glu) (rs1026613471)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000681805 SCV001143228 likely pathogenic not provided 2019-05-02 criteria provided, single submitter clinical testing The variant disrupts a glycine residue in the canonical Gly-X-Y repeats of the triple helix domain, which are required for stability and structure of this protein. Therefore it is expected to severely affect the function of the protein. The best available variant frequency is uninformative because it is below the disease allele frequency.
Invitae RCV000681805 SCV001219500 uncertain significance not provided 2020-01-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 408 of the COL4A4 protein (p.Gly408Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 562349). 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: "Probably 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.
Gharavi Laboratory,Columbia University RCV000681805 SCV000809275 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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