ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.5045G>A (p.Arg1682Gln) (rs368404711)

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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 RCV000516925 SCV000612975 uncertain significance not specified 2017-06-07 criteria provided, single submitter clinical testing
Invitae RCV000681727 SCV001415599 likely pathogenic not provided 2020-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1682 of the COL4A4 protein (p.Arg1682Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs368404711, ExAC 0.01%). This variant has been observed in individuals affected with hematuria and thin basement membrane nephropathy (PMID: 17216251, 26809805, 27859054). ClinVar contains an entry for this variant (Variation ID: 447192). 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: Not Available; Align-GVGD: Class C0). This variant disrupts the p.Arg1682 amino acid residue in COL4A4. Other variant(s) that disrupt this residue have been observed in individuals with COL4A4-related conditions (PMID: 21897443), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Gharavi Laboratory,Columbia University RCV000681727 SCV000809180 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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