ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) (rs138803855)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152576 SCV000201833 benign not specified 2014-09-09 criteria provided, single submitter clinical testing Val4016Met in exon 61 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 3.1% (6/186) of African chromosomes by the 1000 Genomes Project (rs138803855). It has also been identified in 0.3% (13/4404) of African American chromosomes by the NHLBI Exome sequencing project (, and the valine (Val) residue at position 4 016 is not conserved with squirrel, jerboa, prairie vole, rabbit, and aardvark h aving a methionine (Met).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152576 SCV000339954 benign not specified 2016-04-08 criteria provided, single submitter clinical testing
Invitae RCV000884161 SCV001027517 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000884161 SCV001875191 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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