ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs)

dbSNP: rs2068436110
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001251469 SCV001427171 pathogenic X-linked Alport syndrome 2019-01-07 criteria provided, single submitter clinical testing A hemizygous frameshift deletion variant, NM_000495.4(COL4A5):c.4101_4108del, has been identified in exon 45 of 51 of the COL4A5 gene. This deletion is predicted to create a frameshift starting at amino acid position 1367, introducing a stop codon 3 residues downstream (NP_000486.1(COL4A5):p.(Gln1367Hisfs*3)). 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. This variant has not been previously reported in clinical cases. Many upstream and downstream variants resulting in a premature termination codon have been reported in patients with Alport syndrome (ClinVar). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC.

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