ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter)

dbSNP: rs1207493576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005056794 SCV005702037 pathogenic not provided 2024-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys48*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 829844). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029783 SCV001192562 pathogenic Autosomal dominant Alport syndrome 2019-05-23 no assertion criteria provided clinical testing

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