ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter)

dbSNP: rs2068413590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264070 SCV001442170 likely pathogenic X-linked Alport syndrome 2019-12-23 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001264070 SCV004101661 likely pathogenic X-linked Alport syndrome 2023-10-18 criteria provided, single submitter clinical testing The identified hemizygous nonsense substitution (p.Lys1341Ter) lies in exon 44 of the COL4A5 gene and is predicted to cause premature termination of the protein. The variant c.4021A>T (p.Lys1341Ter) has not been found in 1000 genomes and gnomad databases. The in silico prediction of the variant are probably damaging by LRT and FATHMM-MKL. In summary, the variant meets our criteria to be classified as likely pathogenic.

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