ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.3198del (p.Phe1066fs) (rs1599651549)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990217 SCV001141087 pathogenic SPINOCEREBELLAR ATAXIA 46 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001008813 SCV001168614 likely pathogenic not provided 2018-11-23 criteria provided, single submitter clinical testing The c.3198delT variant in the PRX gene has been reported previously in the homozygous state in association with Charcot-Marie-Tooth type 4F (Renouil et al., 2013). The c.3198delT variant causes a frameshift starting with codon Phenylalanine 1066, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Phe1066LeufsX61. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 396 amino acids are lost and replaced with 60 incorrect amino acids. The c.3198delT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3198delT as a likely pathogenic variant.
Molecular Genetics Laboratory,London Health Sciences Centre RCV000789548 SCV001335823 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789548 SCV000928904 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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