ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.687del (p.Ser230fs)

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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 RCV003448852 SCV004176638 likely pathogenic Holocarboxylase synthetase deficiency 2023-02-14 criteria provided, single submitter clinical testing The frame shift c.687del (p.Ser230ValfsTer175) variant in HLCS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser230ValfsTer175 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 Serine 230, changes this amino acid to Valine residue, and creates a premature Stop codon at position 175 of the new reading frame, denoted p.Ser230ValfsTer175. 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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