ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9203T>C (p.Val3068Ala) (rs146445078)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416029 SCV000493428 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041940 SCV000065636 likely benign not specified 2017-08-15 criteria provided, single submitter clinical testing p.Val3068Ala in exon 46 of USH2A: This variant is not expected to have clinical significance because of a lack of conservation across species including mammals. Of note, rat, mouse and opossum have an alanine at this position despite high n earby amino acid conservation. It has been identified in 85/126144 of European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit; dbSNP rs146445078).

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