ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) (rs111033362)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039743 SCV000063432 benign not specified 2011-09-02 criteria provided, single submitter clinical testing Asn1617Ser in exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 0.7%(32/4548)of control chromosome s. In addition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not sugge st a high likelihood of impact to the protein primarily based upon a lack of con servation across species including mammals. Of note, mouse, rat, chick, platypus and lizard has a serine at this position.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039743 SCV000114270 benign not specified 2013-10-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000039743 SCV000297035 likely benign not specified 2015-10-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039743 SCV000315069 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350911 SCV000363135 likely benign Usher syndrome type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514010 SCV000609846 likely benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Invitae RCV000514010 SCV001035079 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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