ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter) (rs926605269)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669401 SCV000794150 likely pathogenic Alport syndrome, autosomal recessive 2017-09-16 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV001788315 SCV002029248 pathogenic Alport syndrome 3, autosomal dominant 2021-11-11 criteria provided, single submitter clinical testing This sequence change in COL4A4 is a nonsense variant predicted to cause a premature stop codon (p.(Gly469*)) in biologically-relevant-exon 21/48 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PMID: 20301386). This variant is present in a single European (non-Finnish) individual in gnomAD v2.1 (1/67,998 alleles). This variant has been reported in at least two probands with a phenotype consistent with autosomal dominant Alport syndrome (PMID: 15954103; Royal Melbourne Hospital). Based on the classification scheme RMH Modified ACMG Guidelines v1.4.0, this variant is classified as PATHOGENIC. Following criteria are met: PVS1, PS4_Supporting, PM2_Supporting.

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