ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)

dbSNP: rs1962628992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171499 SCV001305364 pathogenic Autosomal recessive Alport syndrome 2020-05-27 criteria provided, single submitter research
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171341 SCV001328288 pathogenic Chronic kidney disease 2020-05-28 criteria provided, single submitter research PVS1, PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV002557473 SCV003308535 pathogenic not provided 2023-04-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1535Glufs*21) 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). This premature translational stop signal has been observed in individual(s) with clinical features of Alport syndrome (PMID: 32723786). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 915852).

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