ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) (rs146199636)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594545 SCV000705648 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763657 SCV000894537 uncertain significance Deafness, autosomal recessive 23; Usher syndrome, type 1D; Usher syndrome, type 1F 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392638 SCV000363202 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302330 SCV000363203 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825082 SCV000966321 benign not specified 2018-05-15 criteria provided, single submitter clinical testing p.Val634Ile in exon 15 of PCDH15: This variant is classified as benign due to a lack of conservation across species, including mammals. Of note, >40 mammals hav e an Isoleucine (Ile) at this position despite high nearby amino acid conservati on. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. It has been identified in 0.32% (97/30666) of South A sian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org; dbSNP rs146199636). ACMG/AMP criteria applied: BS1, BP4_Strong.

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