ClinVar Miner

Submissions for variant NM_012478.4(WBP2):c.466C>G (p.Pro156Ala)

gnomAD frequency: 0.00002  dbSNP: rs773715692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328673 SCV001519841 uncertain significance Hearing loss, autosomal recessive 107 2020-07-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035270 SCV003737564 uncertain significance not specified 2022-03-03 criteria provided, single submitter clinical testing The c.466C>G (p.P156A) alteration is located in exon 5 (coding exon 5) of the WBP2 gene. This alteration results from a C to G substitution at nucleotide position 466, causing the proline (P) at amino acid position 156 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005094407 SCV005728634 uncertain significance not provided 2024-07-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 156 of the WBP2 protein (p.Pro156Ala). This variant is present in population databases (rs773715692, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with WBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1027790). 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 WBP2 protein function with a negative predictive value of 80%. 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.

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