ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2386G>A (p.Val796Ile)

gnomAD frequency: 0.00006  dbSNP: rs374715306
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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 RCV001307730 SCV001497154 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 796 of the PCDH15 protein (p.Val796Ile). This variant is present in population databases (rs374715306, gnomAD 0.01%). 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: 1010145). 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. 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. RCV001835505 SCV002088444 uncertain significance Usher syndrome type 1F 2020-03-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004734110 SCV005364363 uncertain significance PCDH15-related disorder 2024-08-27 no assertion criteria provided clinical testing The PCDH15 c.2386G>A variant is predicted to result in the amino acid substitution p.Val796Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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