ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.761_762del (p.Glu254fs)

dbSNP: rs104886443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000021196 SCV001149730 pathogenic X-linked Alport syndrome 2018-12-20 criteria provided, single submitter clinical testing
Invitae RCV002532968 SCV003445182 pathogenic not provided 2022-09-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu254Valfs*11) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). For these reasons, this variant has been classified as Pathogenic. This variant is also known as Glu254-->frameshift. This premature translational stop signal has been observed in individual(s) with clinical features of Alport syndrome (PMID: 8738805, 33040356). This variant is not present in population databases (gnomAD no frequency).

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