ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val) (rs1315862965)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755746 SCV000883272 uncertain significance Alport syndrome, autosomal recessive 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Alport syndrome, autosomal recessive, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/29946535). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.

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