ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) (rs891854419)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674209 SCV000799509 likely pathogenic Alport syndrome, autosomal recessive 2018-04-23 criteria provided, single submitter clinical testing
Invitae RCV001219761 SCV001391715 pathogenic not provided 2019-04-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1541*) 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. ClinVar contains an entry for this variant (Variation ID: 557998). 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.

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