ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5416C>T (p.Pro1806Ser)

gnomAD frequency: 0.00003  dbSNP: rs750061228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226954 SCV001399286 uncertain significance not provided 2022-07-12 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 1806 of the PCDH15 protein (p.Pro1806Ser). This variant is present in population databases (rs750061228, gnomAD 0.007%). 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: 954494). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". 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.
Natera, Inc. RCV001833959 SCV002078662 uncertain significance Usher syndrome type 1F 2021-09-17 no assertion criteria provided clinical testing

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