ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) (rs769783985)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665227 SCV000789311 likely pathogenic Alport syndrome, autosomal recessive 2017-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710842 SCV000841147 pathogenic not provided 2018-08-22 criteria provided, single submitter clinical testing The variant disrupts a glycine residue in the canonical Gly-X-Y repeats of the triple helix domain, which are required for stability and structure of this protein. Therefore it is expected to severely affect the function of the protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV001029878 SCV001192669 pathogenic Alport syndrome 3, autosomal dominant 2019-11-29 no assertion criteria provided clinical testing

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