ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) (rs756133651)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668719 SCV000793364 likely pathogenic Alport syndrome, autosomal recessive 2017-08-15 criteria provided, single submitter clinical testing
Invitae RCV001386039 SCV001586128 pathogenic not provided 2020-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg317Glyfs*8) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs756133651, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL4A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 553304). Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001386039 SCV002008851 likely pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing Frameshift 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 (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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