ClinVar Miner

Submissions for variant NM_001289104.2(PRKCSH):c.247_248insT (p.Lys83fs)

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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 RCV004547322 SCV005042788 likely pathogenic Polycystic liver disease 1 criteria provided, single submitter clinical testing The frameshift c.247_248insT p.Lys83IlefsTer16 variant in PRKCSH gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys83IlefsTer16 variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Lysine 83, changes this amino acid to Isoleucine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Lys83IlefsTer16. 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.

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