ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2355A>C (p.Glu785Asp)

dbSNP: rs2106152150
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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 RCV001864034 SCV002122289 uncertain significance not provided 2021-10-10 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. 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 not expected to disrupt COL4A3 protein function. 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 glutamic acid with aspartic acid at codon 785 of the COL4A3 protein (p.Glu785Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
Fulgent Genetics, Fulgent Genetics RCV005023310 SCV005651299 uncertain significance Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-03-07 criteria provided, single submitter clinical testing

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