ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=)

dbSNP: rs281874724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001860460 SCV002282745 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 522412). This variant has not been reported in the literature in individuals affected with COL4A5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 1308 of the COL4A5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL4A5 protein. This variant also falls at the last nucleotide of exon 42, which is part of the consensus splice site for this exon.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625548 SCV000746043 likely pathogenic X-linked Alport syndrome 2017-09-18 no assertion criteria provided clinical testing

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