ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12557T>C (p.Ile4186Thr) (rs112120466)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767175 SCV000572702 uncertain significance not provided 2017-12-21 criteria provided, single submitter clinical testing The I4186T variant in the USH2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I4186T variant is observed in 145/23936 (0.6%) alleles from individuals of African background in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). The I4186T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret I4186T as a variant of uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041722 SCV000065418 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ile4186Thr in Exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (22/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs112120466).

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