ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu)

gnomAD frequency: 0.00001  dbSNP: rs397517453
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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 RCV000039710 SCV000063399 uncertain significance not specified 2012-11-05 criteria provided, single submitter clinical testing The Asp813Glu variant in PCDH15 has not been reported in the literature nor prev iously identified by our laboratory. In addition, this variant has not been iden tified in large and broad European American or African American populations by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computati onal analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyP hen2, and SIFT) do not provide strong support for or against an impact to the pr otein. In summary, additional information is needed to fully assess the clinical significance of the Asp813Glu variant.
Natera, Inc. RCV001274797 SCV001459224 uncertain significance Usher syndrome type 1F 2020-09-16 no assertion criteria provided clinical testing

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