ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter)

dbSNP: rs104886293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264072 SCV001442172 likely pathogenic X-linked Alport syndrome 2019-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388175 SCV001589047 pathogenic not provided 2022-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 984067). A different variant (c.4614G>A) giving rise to the same protein effect has been determined to be pathogenic (PMID: 8940267, 30691124). This suggests that this variant is also likely to be causative of disease. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1538*) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805).
Fulgent Genetics, Fulgent Genetics RCV001264072 SCV002787465 pathogenic X-linked Alport syndrome 2021-10-21 criteria provided, single submitter clinical testing

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