ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)

dbSNP: rs2071142257
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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 RCV001238354 SCV001411159 likely pathogenic not provided 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 514 of the COL4A3 protein (p.Gly514Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant COL4A3-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 964178). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt COL4A3 protein function with a positive predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV005014290 SCV005648994 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-06-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828901 SCV002076397 uncertain significance Alport syndrome 2020-03-11 no assertion criteria provided clinical testing

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