ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter)

dbSNP: rs2070736908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264040 SCV001442140 likely pathogenic Autosomal recessive Alport syndrome 2019-12-29 criteria provided, single submitter clinical testing
Invitae RCV003542339 SCV004244709 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu405*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with COL4A3-related conditions (PMID: 35497790). ClinVar contains an entry for this variant (Variation ID: 984035). For these reasons, this variant has been classified as Pathogenic.

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