ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) (rs1553643669)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671532 SCV000796517 likely pathogenic Alport syndrome, autosomal recessive 2017-12-19 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV001251511 SCV001427182 pathogenic Benign familial hematuria 2019-03-17 criteria provided, single submitter clinical testing A heterozygous duplication variant, NM_000092.4(COL4A4):c.2279dup, has been identified in exon 28 of 48 of the COL4A4 gene. This duplication is predicted to create a frameshift starting at amino acid position 761, introducing a stop codon 27 residues downstream (NP_000083.3(COL4A4):p.(Asp761Argfs*27)). This variant is predicted to result in loss of protein function through nonsense mediated decay, which is a reported mechanism of pathogenicity for this gene. The variant is absent in population databases (gnomAD, dbSNP, 1000G) but has been previously described once as pathogenic and once as likely pathogenic (ClinVar). Addtionally, many other loss of function variants have been reported as pathogenic (ClinVar). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC.
Gharavi Laboratory,Columbia University RCV000681761 SCV000809219 pathogenic not provided 2018-09-16 no assertion criteria provided research

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