ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)

dbSNP: rs2073401281
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069634 SCV001234813 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1349 of the COL4A3 protein (p.Gly1349Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with COL4A3-related conditions (PMID: 33369211, 33532864). ClinVar contains an entry for this variant (Variation ID: 862824). 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 COL4A3 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Medical Genetics, University of Parma RCV001089919 SCV001245152 likely pathogenic Autosomal dominant Alport syndrome; Benign familial hematuria 2020-03-11 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV001281230 SCV001425005 likely pathogenic Autosomal recessive Alport syndrome 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005029664 SCV005656118 uncertain significance Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-06-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833664 SCV002076427 uncertain significance Alport syndrome 2021-10-15 no assertion criteria provided clinical testing

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