ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.1841_1842del (p.Pro614fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004792225 SCV005413996 likely pathogenic not provided 2024-05-15 criteria provided, single submitter clinical testing PM2, PVS1
Neuberg Centre For Genomic Medicine, NCGM RCV004818800 SCV005438960 likely pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome criteria provided, single submitter clinical testing The observed frameshift variant c.1841_1842delp.Pro614ArgfsTer28 in the SCYL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.004% in the gnomAD Exomes. This variant causes a frameshift starting with codon Proline 614, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Pro614ArgfsTer28. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing Lenz D, et al., 2019. For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant, the molecular diagnosis is not confirmed.

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