ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5335C>T (p.Pro1779Ser)

gnomAD frequency: 0.00003  dbSNP: rs1421385928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369011 SCV001565437 uncertain significance not provided 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1779 of the PCDH15 protein (p.Pro1779Ser). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1059676). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Breakthrough Genomics, Breakthrough Genomics RCV001369011 SCV005190755 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001831285 SCV002081206 uncertain significance Usher syndrome type 1F 2020-02-13 no assertion criteria provided clinical testing

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