ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter)

gnomAD frequency: 0.00001  dbSNP: rs543422544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992831 SCV001145392 likely pathogenic not provided 2018-10-18 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. The best available variant frequency is above the disease allele frequency but data include fewer than 10 observations.

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