ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3807-6T>G (rs727504791)

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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 RCV000156110 SCV000205823 uncertain significance not specified 2013-10-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 3807-6T>G varia nt in PCDH15 has not been reported in the literature and data from large populat ion studies is insufficient to assess the frequency of this variant. This varian t is located in the 3' splice region but not in the invariant -1/-2 splice site positions of the splice site consensus sequence. Computational tools do not sugg est an impact to splicing, though this information is not predictive enough to r ule out pathogenicity. In summary, the clinical significance of this variant can not be determined with certainty; however, based upon the computational data, we lean towards a more likely benign role.
Counsyl RCV000668863 SCV000793536 uncertain significance Usher syndrome type 1F 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV001246357 SCV001419704 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing This sequence change falls in intron 28 of the PCDH15 gene. It does not directly change the encoded amino acid sequence of the PCDH15 protein. This variant is present in population databases (rs727504791, ExAC 0.03%). This variant has not been reported in the literature in individuals with PCDH15-related disease. ClinVar contains an entry for this variant (Variation ID: 179321). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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