ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.1096G>A (p.Gly366Arg) (rs539765620)

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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 RCV000681847 SCV001143217 likely pathogenic not provided 2019-05-22 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 RCV000681847 SCV001234815 uncertain significance not provided 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 366 of the COL4A3 protein (p.Gly366Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs539765620, ExAC 0.02%). This variant has not been reported in the literature in individuals with COL4A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 562384). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000681847 SCV000809324 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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