ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala) (rs200779709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000600877 SCV000712067 uncertain significance not specified 2016-05-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser851Ala var iant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome; however, this variant has been identified in 0.2% (16/8650) o f East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.; dbSNP rs200779709). Although this variant has been seen in t he general population, its frequency is not high enough to rule out a pathogenic role. The serine (Ser) at position 851 is not conserved in mammals or evolution ary distant species, and one mammal (ferret) has an alanine (Ala) at this positi on supporting that a change at this position may be tolerated. In summary, while the clinical significance of the p.Ser851Ala variant is uncertain, these data s uggest that it is more likely to be benign.
Invitae RCV000910503 SCV001055373 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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