ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu)

dbSNP: rs767761740
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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 RCV001880249 SCV002211781 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 990219). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. This variant is present in population databases (rs767761740, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1443 of the PCDH15 protein (p.Pro1443Leu).
Natera, Inc. RCV001278194 SCV001465190 uncertain significance Usher syndrome type 1F 2020-04-16 no assertion criteria provided clinical testing

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