ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) (rs200443942)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV001007587 SCV001167233 uncertain significance Alport syndrome 3, autosomal dominant 2019-10-18 criteria provided, single submitter clinical testing COL4A3 c.3644G>A has been reported in an individual with a clinical diagnosis of Alport syndrome, however, it has not been reported in ClinVar, to our knowledge. This variant (rs200443942) is present in a large population dataset5 (gnomAD: 35/253468 total alleles; 0.014%; no homozygotes). This missense substitution is located within the collagenous domain of COL4A3. Three bioinformatic tools queried predict that this substitution would be tolerated, and the arginine residue at this position is poorly evolutionarily conserved across the species assessed. Due to insufficient evidence, we consider the clinical significance of c.3644G>A to be uncertain at this time.
Illumina Clinical Services Laboratory,Illumina RCV001141512 SCV001301863 uncertain significance Alport syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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