ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.779dup (p.Val261fs) (rs748018297)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599429 SCV000710779 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KANSL1 gene. The c.779dupG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.779dupG variant is observed in 2/30778 (0.01%) alleles from individuals of South Asian background (Lek et al., 2016). The c.779dupG variant causes a frameshift starting with codon Valine 261, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 6 of the new reading frame, denotedp.Val261CysfsX6. If present in the primary transcript, this variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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