ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1483G>A (p.Val495Ile)

gnomAD frequency: 0.00008  dbSNP: rs187727835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551154 SCV001771598 uncertain significance not provided 2020-11-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001551154 SCV002194358 uncertain significance not provided 2022-08-19 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 495 of the PCDH15 protein (p.Val495Ile). This variant is present in population databases (rs187727835, gnomAD 0.04%). 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: 1190436). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine 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. RCV001832748 SCV002088711 uncertain significance Usher syndrome type 1F 2020-01-29 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004734231 SCV005361312 uncertain significance PCDH15-related disorder 2024-08-22 no assertion criteria provided clinical testing The PCDH15 c.1483G>A variant is predicted to result in the amino acid substitution p.Val495Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of East Asian 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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