ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.181G>A (p.Gly61Arg)

dbSNP: rs2147471872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420286 SCV001622706 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PP3_strong;PM1_moderate;PM2_supporting;PP2_supporting
Invitae RCV002554085 SCV003446428 uncertain significance not provided 2022-03-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1098373). This variant has not been reported in the literature in individuals affected with PQBP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 61 of the PQBP1 protein (p.Gly61Arg).

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