ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.1987G>A (p.Gly663Ser)

gnomAD frequency: 0.00001  dbSNP: rs139988853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776535 SCV002013184 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001776535 SCV003288642 uncertain significance not provided 2024-08-08 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 664 of the COL4A6 protein (p.Gly664Ser). This variant is present in population databases (rs139988853, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with COL4A6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1320556). 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 COL4A6 protein function with a negative predictive value of 80%. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001776535 SCV005411469 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing PP3

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