ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) (rs1553695272)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668858 SCV000793531 uncertain significance Alport syndrome, autosomal recessive 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV001313363 SCV001503856 uncertain significance not provided 2020-06-22 criteria provided, single submitter clinical testing This variant, c.480_482dup, results in the insertion of 1 amino acid(s) to the COL4A4 protein (p.Gly161dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Alport syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 553413). 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 RCV000735657 SCV000863798 uncertain significance Alport syndrome 3, autosomal dominant 2018-01-09 no assertion criteria provided clinical testing

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