ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.143_144del (p.Val47_Tyr48insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004723668 SCV005328391 likely pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome criteria provided, single submitter clinical testing In-silico analysis tool (MutationTaster, SIFT-Indel) predicts that this variant affects SCYL1 translation. This variant is predicted to result in a shift in the reading frame, which results in premature termination which is likely to result in either truncated protein or nonsense-mediated mRNA decay.

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