ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.476del (p.Gly159fs)

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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 RCV004818857 SCV005438769 likely pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 2023-07-22 criteria provided, single submitter clinical testing The observed frameshift c.476del p.Gly159AlafsTer110 variant in SCYL1 gene has not been previously reported as pathogenic variant nor as a benign variant, to our knowledge. The p.Gly159AlafsTer110 variant is present with allele frequency of 0.0004% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. This variant causes a frameshift starting with codon Glycine 159, changes this amino acid to Alanine residue, and creates a premature Stop codon at position 110 of the new reading frame, denoted p.Gly159AlafsTer110. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants in SCYL1 gene have been previously reported to be disease causing Lenz et al., 2018. Additional functional stuides will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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