ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val) (rs199537178)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477800 SCV000536860 uncertain significance Deafness, autosomal recessive 23; Usher syndrome, type 1D; Usher syndrome, type 1F 2015-04-07 no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151632 SCV000199859 uncertain significance not specified 2015-08-07 criteria provided, single submitter clinical testing The p.Ala701Val variant in PCDH15 has been previously reported by our laboratory in one individual with mild to moderate sensorineural hearing loss; however, a second variant affecting the remaining copy of PCDH15 was not identified in that individual (LMM unpublished data). This variant has been identified in 13/6654 8 European chromosomes by the Exome Aggregation consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs199537178). Computational prediction tools and conserv ation analysis do not provide strong support for or against an impact to the pro tein. In summary, the clinical significance of the p.Ala701Val variant is uncert ain.

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