ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.930+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447828 SCV004175665 uncertain significance Alport syndrome 2021-11-12 criteria provided, single submitter clinical testing The COL4A4 c.930+5G>A variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE (PM2, PP3) This variant is a single nucleotide change from a guanine to an adenine at position 930+5 in intron 15 of the COL4A4 gene. Computational splice prediction algorithms suggest that the change may affect splicing at the nearby splice donor site (PP3). The variant has not been reported in dbSNP and is absent from population databases (PM2). The variant has not been reported in the ClinVar or HGMD disease databases.

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