ClinVar Miner

Submissions for variant NM_023077.3(COA7):c.97del (p.Asp33fs)

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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 RCV003337787 SCV004048069 likely pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 criteria provided, single submitter clinical testing The frameshift variant c.97del (p.Asp33ThrfsTer26) in COA7 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.D33Tfs26 variant is observed in 1/30,562 (0.0033%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Aspartic Acid 33, changes this amino acid to Threonine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Asp33ThrfsTer26. This variant is predicted to cause loss of normal protein function through protein truncation caused by a frameshift mutation. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant, the molecular diagnosis of COA7 related disorder is not confirmed.

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