ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)

gnomAD frequency: 0.00001  dbSNP: rs759583948
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281281 SCV001425010 likely pathogenic Autosomal dominant Alport syndrome 2020-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001316984 SCV001507626 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 1666 of the COL4A3 protein (p.Met1666Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs759583948, ExAC 0.02%). This missense change has been observed in individual(s) with COL4A3-related conditions (PMID: 33532864). ClinVar contains an entry for this variant (Variation ID: 974509). 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: "Tolerated"; PolyPhen-2: "Not Available"; 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.
GeneDx RCV001316984 SCV005390594 uncertain significance not provided 2024-03-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33532864)
Natera, Inc. RCV001836251 SCV002076444 uncertain significance Alport syndrome 2021-03-02 no assertion criteria provided clinical testing

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