ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) (rs759873621)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667489 SCV000791946 likely pathogenic Alport syndrome, autosomal recessive 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV001066963 SCV001231989 pathogenic not provided 2019-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1516*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Alport syndrome (PMID: 15954103, 18436078, 30881523). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 552261). Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). For these reasons, this variant has been classified as Pathogenic.
Sydney Genome Diagnostics,Children's Hospital Westmead RCV001328056 SCV001449243 pathogenic Alport syndrome 2018-08-28 no assertion criteria provided clinical testing This patient is also heterozygous for a known pathogenic variant, c.4546C>T, in exon 49 of the COL4A3 gene. This variant creates a premature stop codon (p.Arg1516*), and may result in a null allele due to nonsense-mediated mRNA decay. This variant is considered to be pathogenic, and has been previously reported in patients with autosomal recessive Alport syndrome in the literature (Nagel et al 2005 Hum Mutat 26:60; Cook et al 2008 Am J Kidney Dis 51:e25-e28). This variant is considered to be pathogenic

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