ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.1386+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152858 SCV003841327 pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). This variant was predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported to be associated with SCYL1 related disorder (PMID: 32146038). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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