ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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loss; however, a second variant affecting the remaining copy of PCDH15 was not identified in that individual (LMM unpublished data).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.
Invitae RCV001245383 SCV001418667 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 701 of the PCDH15 protein (p.Ala701Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs199537178, ExAC 0.02%). This variant has not been reported in the literature in individuals with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 164921). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
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

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