ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4982T>A (p.Phe1661Tyr) (rs374119389)

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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 RCV000825906 SCV000967391 uncertain significance not specified 2018-04-04 criteria provided, single submitter clinical testing The p.Phe1661Tyr variant in COL4A4 has not been previously reported in individua ls with hearing loss, but has been identified in 34/126716 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs374119389). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational p rediction tools and conservation analysis do not provide strong support for or a gainst an impact to the protein. In summary, the clinical significance of the p. Phe1661Tyr variant is uncertain. ACMG/AMP Criteria applied: None.
Illumina Clinical Services Laboratory,Illumina RCV001137745 SCV001297719 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000735763 SCV000863922 uncertain significance Alport syndrome 3, autosomal dominant 2018-08-16 no assertion criteria provided clinical testing

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