ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp)

gnomAD frequency: 0.00003  dbSNP: rs772699709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857238 SCV002129510 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 1030 of the COL4A4 protein (p.Gly1030Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs772699709, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 438699). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL4A4 protein function. 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505652 SCV000599857 likely pathogenic Autosomal recessive Alport syndrome 2017-04-20 no assertion criteria provided clinical testing

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