ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp)

gnomAD frequency: 0.00005  dbSNP: rs201489630
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660228 SCV000782231 uncertain significance Renpenning syndrome 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001584519 SCV001818610 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001584519 SCV003248191 benign not provided 2023-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403521 SCV004104038 uncertain significance PQBP1-related disorder 2023-06-29 criteria provided, single submitter clinical testing The PQBP1 c.397C>T variant is predicted to result in the amino acid substitution p.Arg133Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-48759614-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004026049 SCV005010585 likely benign Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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