ClinVar Miner

Submissions for variant NM_005710.2(PQBP1):c.640dup (p.Arg214fs) (rs606231196)

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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 RCV000011729 SCV000245528 pathogenic Renpenning syndrome 1 2013-02-05 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory maternally inherited in a 40-year-old male with intellectual disability, autism, dysmorphic features, strabismus
GeneDx RCV000599325 SCV000709914 pathogenic not provided 2018-10-24 criteria provided, single submitter clinical testing The c.640dupC variant in the PQBP1 gene, reported as c.641insC due to use of alternative nomenclature, segregates with Renpenning syndrome in multiple affected male individuals from a single family in published literature (Lenski et al., 2004). The c.640dupC variant causes a frameshift starting with codon Arginine 214, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Arg214ProfsX13. This variant is predicted to cause loss of normal protein function through protein truncation as the last 52 amino acids of the protein are lost and replaced with 12 incorrect amino acids. The c.640dupC variant is not observed in large population cohorts (Lek et al., 2016).
OMIM RCV000011729 SCV000031961 pathogenic Renpenning syndrome 1 2004-04-01 no assertion criteria provided literature only

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