ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5343_5351del (p.1780PPS[1])

dbSNP: rs2076338069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245177 SCV001418447 uncertain significance not provided 2019-09-21 criteria provided, single submitter clinical testing This variant, c.5343_5351del, results in the deletion of 3 amino acid(s) of the PCDH15 protein (p.Pro1783_Ser1785del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PCDH15-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, 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. RCV001829949 SCV002075683 uncertain significance Usher syndrome type 1F 2021-04-23 no assertion criteria provided clinical testing

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