ClinVar Miner

Submissions for variant NM_178172.6(GPIHBP1):c.397del (p.Ser133fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468529 SCV002764530 likely pathogenic Hyperlipoproteinemia, type 1D 2020-12-16 criteria provided, single submitter clinical testing The heterozygous one nucleotide deletion, c.397del (p.Ser133ProfsTer120), identified in the GPIHBP1 gene has not been reported in affected individuals in the literature. The c.397del variant is predicted to alter the wild type translational reading frame. The variant is located in the last exon of GPIHBP1 and, therefore, the mutant mRNA is predicted to escape nonsense mediated decay. If translated, the resulting aberrant protein is predicted to have an altered functionally-important cysteine-rich Ly6 domain [amino acids 51 to 151, PMID:24614124]. Frameshift variants downstream of c.397del have been reported in the literature [PMID:24614124,30150141]. The c.397del variant is absent from gnomAD database indicating it is an extremely rare allele in the populations represented in that database. Based on the available evidence, the heterozygous c.397del (p.Ser133ProfsTer120) variant identified in the GPIHBP1 gene is reported as likely pathogenic.

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