ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp)

gnomAD frequency: 0.00003  dbSNP: rs1467649797
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763279 SCV001990677 uncertain significance not provided 2019-03-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32903913)
Fulgent Genetics, Fulgent Genetics RCV002477949 SCV002779570 uncertain significance Renpenning syndrome 2022-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001763279 SCV003447280 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1308367). This missense change has been observed in individual(s) with clinical features of PQBP1-related conditions (PMID: 32903913). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 214 of the PQBP1 protein (p.Arg214Trp).
Revvity Omics, Revvity RCV002477949 SCV003809833 uncertain significance Renpenning syndrome 2019-12-24 criteria provided, single submitter clinical testing

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