ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1327C>G (p.Leu443Val)

gnomAD frequency: 0.00003  dbSNP: rs779957406
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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 RCV001871550 SCV002216313 uncertain significance not provided 2025-01-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 443 of the PCDH15 protein (p.Leu443Val). This variant is present in population databases (rs779957406, gnomAD 0.009%). 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: 990889). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PCDH15 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV004649552 SCV005148682 uncertain significance Inborn genetic diseases 2024-05-10 criteria provided, single submitter clinical testing The c.1327C>G (p.L443V) alteration is located in exon 12 (coding exon 11) of the PCDH15 gene. This alteration results from a C to G substitution at nucleotide position 1327, causing the leucine (L) at amino acid position 443 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279003 SCV001466058 uncertain significance Usher syndrome type 1F 2020-04-10 no assertion criteria provided clinical testing

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