ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.446del (p.Pro149fs)

dbSNP: rs104886054
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Total submissions: 3
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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 RCV000021152 SCV001149725 pathogenic X-linked Alport syndrome 2019-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000021152 SCV001810365 likely pathogenic X-linked Alport syndrome 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868335 SCV002237891 pathogenic not provided 2021-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro149Leufs*6) 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). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Alport syndrome (PMID: 9848783). This variant is also known as 648delC. ClinVar contains an entry for this variant (Variation ID: 587321). For these reasons, this variant has been classified as Pathogenic.

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