ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter) (rs2059821994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219538 SCV001391482 pathogenic not provided 2019-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln468*) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL4A4-related conditions. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 11961012, 14582039, 19129241, 21196518, 24052634, 24522496, 24854265, 25307543, 26809805, 27281700). For these reasons, this variant has been classified as Pathogenic.
Myriad Women's Health, Inc. RCV001264178 SCV001442280 likely pathogenic Alport syndrome, autosomal recessive 2019-11-20 no assertion criteria provided clinical testing

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