ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del)

dbSNP: rs763534924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665652 SCV000789807 uncertain significance Usher syndrome type 1F 2017-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530661 SCV003521115 uncertain significance not provided 2022-04-17 criteria provided, single submitter clinical testing This variant, c.5472_5495del, results in the deletion of 8 amino acid(s) of the PCDH15 protein (p.Ile1825_Ser1832del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs763534924, gnomAD 0.003%). 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: 550804). 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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