ClinVar Miner

Submissions for variant NM_020374.4(FERRY3):c.527_528del (p.Lys176fs)

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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 RCV004771731 SCV005382448 likely pathogenic Intellectual disability, autosomal recessive 66 2023-05-20 criteria provided, single submitter clinical testing The observed frameshift c.527_528del(p.Lys176SerfsTer23) variant in C12orf4 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Lys176SerfsTer23 variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. This variant causes a frameshift starting with codon Lysine 176, changes this amino acid to Serine residue, and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Lys176SerfsTer23. 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. For these reasons, this variant has been classified as Likely Pathogenic. In absence of another reportable variant in C12orf4 gene, the molecular diagnosis is not confirmed.

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