ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp)

dbSNP: rs200715521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195804 SCV001366224 uncertain significance Renpenning syndrome 2020-03-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
CeGaT Center for Human Genetics Tuebingen RCV001311070 SCV001501105 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235491 SCV003933819 uncertain significance not specified 2024-08-19 criteria provided, single submitter clinical testing Variant summary: PQBP1 c.475C>T (p.Arg159Trp) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.475C>T in individuals affected with Renpenning syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 930267). Based on the evidence outlined above, the variant was classified as uncertain significance.

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