ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.1441G>A (p.Gly481Ser) (rs181528936)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710831 SCV000841136 pathogenic not provided 2019-06-13 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. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.
Invitae RCV000710831 SCV001555249 uncertain significance not provided 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 481 of the COL4A4 protein (p.Gly481Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs181528936, ExAC 0.08%). This variant has been observed in individual(s) with hematuria (PMID: 15618242). ClinVar contains an entry for this variant (Variation ID: 585525). 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.

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