ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile)

dbSNP: rs1471005419
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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 RCV001360186 SCV001556090 uncertain significance not provided 2022-10-03 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PCDH15 protein function. ClinVar contains an entry for this variant (Variation ID: 1052068). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 710 of the PCDH15 protein (p.Val710Ile).
Natera, Inc. RCV001831196 SCV002088510 uncertain significance Usher syndrome type 1F 2021-10-14 no assertion criteria provided clinical testing

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