ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1580del (p.Gly527fs)

dbSNP: rs2059732983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV001089913 SCV001245146 likely pathogenic Autosomal dominant Alport syndrome; Benign familial hematuria 2020-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001237011 SCV001409756 pathogenic not provided 2023-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 870358). This premature translational stop signal has been observed in individuals with Alport syndrome (PMID: 19129241; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly527Valfs*126) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543).
Fulgent Genetics, Fulgent Genetics RCV002505669 SCV002809695 pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2022-04-17 criteria provided, single submitter clinical testing

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