ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) (rs145948549)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825665 SCV000967062 benign not specified 2018-08-08 criteria provided, single submitter clinical testing The p.Arg1159His variant in COL4A3 is classified as benign due to a lack of cons ervation across species, including mammals. Of note, more than 10 mammals have a Histidine (His) at this position despite high nearby amino acid conservation. I n addition, computational prediction tools do not suggest a high likelihood of i mpact to the protein. It has also been identified in 0.4% (70/18864) of East Asi an chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org dbSNP rs145948549). ACMG/AMP Criteria applied: BS1, BP4_Strong.
Invitae RCV000912182 SCV001057276 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001141509 SCV001301860 uncertain significance Alport syndrome 2018-01-13 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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