ClinVar Miner

Submissions for variant NM_031448.6(C19orf12):c.36_40del (p.Cys13fs)

dbSNP: rs2513300586
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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 RCV003340872 SCV004047669 likely pathogenic Hereditary spastic paraplegia 43 criteria provided, single submitter clinical testing The frameshift variant c.36_40del (p.Cys13ProfsTer57) in C19orf12 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Cys13ProfsTer57 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Cysteine 13, changes this amino acid to Proline residue, and creates a premature Stop codon at position 57 of the new reading frame, denoted p.Cys13ProfsTer57. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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