ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4334-23A>G

dbSNP: rs766501515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281124 SCV001425026 likely pathogenic Autosomal recessive Alport syndrome 2020-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001879803 SCV002296973 likely pathogenic not provided 2021-09-14 criteria provided, single submitter clinical testing This variant has been observed in individual(s) autosomal recessive Alport syndrome (PMID: 9792860, 33532864). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 4542-23A>G. ClinVar contains an entry for this variant (Variation ID: 974377). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 sequence change falls in intron 45 of the COL4A4 gene. It does not directly change the encoded amino acid sequence of the COL4A4 protein.
GeneDx RCV001879803 SCV005325056 uncertain significance not provided 2023-09-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 33532864, 9792860)

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