ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp)

dbSNP: rs104886261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710877 SCV000841185 pathogenic not provided 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV000710877 SCV002234967 pathogenic not provided 2022-01-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. 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 COL4A5 protein function. ClinVar contains an entry for this variant (Variation ID: 24678). This missense change has been observed in individuals with clinical features of Alport syndrome (PMID: 19919694; Invitae). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1244 of the COL4A5 protein (p.Gly1244Asp).
Fulgent Genetics, Fulgent Genetics RCV002496435 SCV002808847 pathogenic X-linked Alport syndrome 2022-03-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000710877 SCV004227698 pathogenic not provided 2022-09-27 criteria provided, single submitter clinical testing PP3, PM1, PM2_supporting, PS3_supporting, PS4_moderate

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