ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr)

gnomAD frequency: 0.00003  dbSNP: rs397517464
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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, Mass General Brigham Personalized Medicine RCV000039749 SCV000063438 uncertain significance not specified 2011-03-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro1760Thr vari ant in PCDH15 has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, ho mology, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. It should be noted that this lab has only sequenced the PCDH15 i n 23 Hispanic probands and no Hispanic healthy controls. In addition, healthy co ntrol information is unavailable from either public databases or scientific lite rature, such that the full spectrum of benign variation has not yet been defined for this population. Future analysis could reveal that the Pro1760Thr variant i s common in this population and therefore unlikely to be pathogenic. In summary, the clinical significance of this variant cannot be determined with certainty a t this time.
Invitae RCV001312814 SCV001503285 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1760 of the PCDH15 protein (p.Pro1760Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 46490). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Natera, Inc. RCV001831688 SCV002089642 uncertain significance Usher syndrome type 1F 2019-11-11 no assertion criteria provided clinical testing

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