ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) (rs1175052474)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626593 SCV000747294 pathogenic Proteinuria; Microscopic hematuria; Microalbuminuria 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626594 SCV000747295 likely pathogenic Macroscopic hematuria 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000505632 SCV001369701 pathogenic Alport syndrome 3, autosomal dominant 2019-10-11 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PM4.
Invitae RCV000681705 SCV001485870 uncertain significance not provided 2020-08-25 criteria provided, single submitter clinical testing This variant, c.3546_3548dup, results in the insertion of 1 amino acid(s) to the COL4A3 protein (p.Gly1183dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL4A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 438655). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000505632 SCV000599808 pathogenic Alport syndrome 3, autosomal dominant 2019-10-31 no assertion criteria provided clinical testing
Gharavi Laboratory,Columbia University RCV000681705 SCV000809157 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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