ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)

dbSNP: rs200814061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315071 SCV001505627 uncertain significance not provided 2022-02-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 801 of the COL4A4 protein (p.Gly801Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of COL4A4-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 992405). 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.
GeneDx RCV001315071 SCV004014191 pathogenic not provided 2023-07-11 criteria provided, single submitter clinical testing Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL4A4 gene, where the majority of pathogenic missense variants occur, and is predicted to disrupt normal protein folding and function (HGMD, Jais et al., 2000); Not observed in large population cohorts (gnomAD); In addition, in silico splice predictors suggest this variant may lead to abnormal gene splicing; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24077912, 10752524)
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280847 SCV001468191 likely pathogenic Autosomal recessive Alport syndrome 2020-06-26 no assertion criteria provided clinical testing

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