ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter)

dbSNP: rs1553762279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667832 SCV000792337 likely pathogenic Autosomal recessive Alport syndrome 2017-06-15 criteria provided, single submitter clinical testing
Invitae RCV001855489 SCV002155813 pathogenic not provided 2022-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 552548). This premature translational stop signal has been observed in individual(s) with Alport syndrome (PMID: 11134255). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1050*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700).

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