ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)

gnomAD frequency: 0.00001  dbSNP: rs1192750535
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517710 SCV000612947 pathogenic not provided 2016-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000517710 SCV002238199 pathogenic not provided 2022-08-09 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: 447171). This variant has not been reported in the literature in individuals affected with COL4A3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu1084*) 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).
GeneDx RCV000517710 SCV005326148 likely pathogenic not provided 2024-03-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005027599 SCV005653965 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-05-24 criteria provided, single submitter clinical testing

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