ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu)

dbSNP: rs2071568063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001345510 SCV001539633 uncertain significance not provided 2020-07-03 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with COL4A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 659 of the COL4A3 protein (p.Gly659Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.
Fulgent Genetics, Fulgent Genetics RCV005023067 SCV005649031 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-01-06 criteria provided, single submitter clinical testing

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