ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4529-345A>G

dbSNP: rs1569508899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303446 SCV001492693 uncertain significance not provided 2020-09-12 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with clinical features of Alport syndrome (PMID: 22921432, 25183659, Invitae). This variant is also known as 4712+ 4709A>G and IVS48-345A>G. ClinVar contains an entry for this variant (Variation ID: 587122). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 22921432, 25183659). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change falls in intron 47 of the COL4A5 gene. It does not directly change the encoded amino acid sequence of the COL4A5 protein.
GeneDx RCV001303446 SCV002503913 pathogenic not provided 2020-01-14 criteria provided, single submitter clinical testing Non-canonical splice site variant demonstrated to result in loss-of-function (Nozu et al., 2014); No data available from control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 25183659, 22921432)
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000714336 SCV000863808 likely pathogenic X-linked Alport syndrome 2018-02-12 no assertion criteria provided clinical testing

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