ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter)

dbSNP: rs369922627
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673399 SCV000798597 likely pathogenic Autosomal recessive Alport syndrome 2018-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477507 SCV002789649 pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2021-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532147 SCV003525201 pathogenic not provided 2022-12-29 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: 557279). This premature translational stop signal has been observed in individual(s) with clinical features of Alport syndrome (PMID: 25596306, 31312213). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1533*) 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).
Renal Department, Renmin Hospital of Wuhan University RCV000850092 SCV000992256 pathogenic Autosomal dominant Alport syndrome 2018-12-01 no assertion criteria provided research

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