ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del)

dbSNP: rs990679247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672810 SCV000797954 likely pathogenic Autosomal recessive Alport syndrome 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV001855584 SCV002214145 uncertain significance not provided 2022-06-19 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 556759). This variant has been observed in individual(s) with clinical features of Alport syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.1033_1050del, results in the deletion of 6 amino acid(s) of the COL4A4 protein (p.Asp345_Gly350del), but otherwise preserves the integrity of the reading frame.

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