ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.432del (p.Asp145fs) (rs1554686365)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521804 SCV000618954 pathogenic not provided 2017-07-03 criteria provided, single submitter clinical testing The c.432delA variant in the PSAT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Aspartic acid 145, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 49 of the new reading frame, denoted p.Asp145MetfsX49. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.432delA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.432delA as a pathogenic variant.
Dudley Research Group,Pacific Northwest Research Institute RCV000521804 SCV001430393 not provided not provided no assertion provided research

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