ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu)

gnomAD frequency: 0.00001  dbSNP: rs727503520
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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, Mass General Brigham Personalized Medicine RCV000152125 SCV000200816 likely benign not specified 2016-10-06 criteria provided, single submitter clinical testing p.Pro686Leu in exon 3 of TPRN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, at least five mammalian species have a leucine (Leu) at this position despit e high nearby amino acid conservation. In addition, computational prediction too ls do not suggest a high likelihood of impact to the protein. It has been identi fied in 2/16500 South Asian chromosomes by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org).
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477803 SCV000536843 uncertain significance Autosomal recessive nonsyndromic hearing loss 79 2015-11-16 no assertion criteria provided research

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