ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4127C>T (p.Ala1376Val)

dbSNP: rs752371584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248418 SCV001421905 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1376 of the PCDH15 protein (p.Ala1376Val). This variant is present in population databases (rs752371584, gnomAD 0.02%). 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: 972397). 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.
GeneDx RCV001248418 SCV002552623 uncertain significance not provided 2022-01-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004035280 SCV004998835 uncertain significance Inborn genetic diseases 2024-01-09 criteria provided, single submitter clinical testing The c.4127C>T (p.A1376V) alteration is located in exon 30 (coding exon 29) of the PCDH15 gene. This alteration results from a C to T substitution at nucleotide position 4127, causing the alanine (A) at amino acid position 1376 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835334 SCV002094729 uncertain significance Usher syndrome type 1F 2020-02-03 no assertion criteria provided clinical testing

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