ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) (rs369513607)

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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 RCV000152564 SCV000201810 likely benign not specified 2013-10-06 criteria provided, single submitter clinical testing Leu4703Ser in Exon 64 of USH2A: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, cat, dog, and megabat have a serine (Ser) at this position despite high nea rby amino acid conservation. In addition, computational analyses (PolyPhen2, SIF T, AlignGVGD) do not suggest a high likelihood of impact to the protein. This va riant has been identified in 0.01% (1/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (
Counsyl RCV000668395 SCV000792987 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-07-25 criteria provided, single submitter clinical testing

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