ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter)

dbSNP: rs1201925443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670484 SCV000795341 likely pathogenic Autosomal recessive Alport syndrome 2017-11-06 criteria provided, single submitter clinical testing
Invitae RCV003669166 SCV004388575 pathogenic not provided 2023-01-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554793). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. This sequence change creates a premature translational stop signal (p.Trp24*) 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).

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