ClinVar Miner

Submissions for variant NM_000113.3(TOR1A):c.287_288del (p.Leu96fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004727204 SCV005329609 likely pathogenic Arthrogryposis multiplex congenita 5 2023-05-20 criteria provided, single submitter clinical testing The frame shift c.287_288del(p.Leu96HisfsTer31) variant in TOR1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is absent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. This variant causes a frameshift starting with codon Leucine 96, changes this amino acid to Histidine residue, and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Leu96HisfsTer31. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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