ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2070del (p.Phe691fs) (rs1555617559)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627617 SCV000748617 likely pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the SPG7 gene. The c.2070delC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2070delC variant causes a frameshift starting with codon Phenylalanine 691, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Phe691SerfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2070delC variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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