ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile)

gnomAD frequency: 0.00016  dbSNP: rs201412509
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638348 SCV000759844 uncertain significance Bardet-Biedl syndrome 2022-08-23 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 480 of the WDPCP protein (p.Val480Ile). This variant is present in population databases (rs201412509, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with WDPCP-related conditions. ClinVar contains an entry for this variant (Variation ID: 531816). 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.
Fulgent Genetics, Fulgent Genetics RCV000765694 SCV000897036 uncertain significance Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816579 SCV002066556 uncertain significance not specified 2019-05-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905720 SCV004725831 uncertain significance WDPCP-related condition 2023-11-20 criteria provided, single submitter clinical testing The WDPCP c.1438G>A variant is predicted to result in the amino acid substitution p.Val480Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of Latino 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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