ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.534G>C (p.Gln178His) (rs746010906)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics laboratory, University of Goettingen RCV001290440 SCV001478406 uncertain significance Peroxisome biogenesis disorder 9B 2021-02-05 criteria provided, single submitter clinical testing The PEX7 variant c.534G>C (p.(Gln178His)) is found at a population frequency of 0.0018% in the gnomAD database, it affects a weakly conserved nucleotide and a moderately conserved amino acid and there is a small physicochemical difference between Gln and His. This variant is located in a protein domain and has a benign computational verdict based on in silico prediction programs (M-CAP, SIFT, PolyPhen-2). ACMG criteria used for classification: PM2, PP2, BP4.

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