ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2712_2715del (p.Gly906fs) (rs1597228550)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008523 SCV001168295 likely pathogenic not provided 2019-01-29 criteria provided, single submitter clinical testing The c.2712_2715delAGTG variant in the SALL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2712_2715delAGTG variant causes a frameshift starting with codon Glycine 906, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 59 of the new reading frame, denoted p.Gly906ValfsX59. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2712_2715delAGTG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2712_2715delAGTG as a likely pathogenic variant.

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