ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.630_633del (p.Lys211fs) (rs1597401735)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009180 SCV001168998 likely pathogenic not provided 2018-12-20 criteria provided, single submitter clinical testing The c.630_633delAAAG likely pathogenic variant in the GAN gene causes a frameshift starting with codon Lysine 211, changes this amino acid to a Serine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Lys211SerfsX3. This likely pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA

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