ClinVar Miner

Submissions for variant NM_145167.3(PIGM):c.401del (p.Asn134fs)

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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 RCV004764841 SCV005374833 pathogenic Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency criteria provided, single submitter clinical testing The frameshift c.401del (p.Asn134ThrfsTer22) variant in the PIGM gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in gnomAD Exomes. This variant causes a frameshift starting with codon Asparagine 134, changes this amino acid to Threonine residue, and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Asn134ThrfsTer22. 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. No variants detected in this gene in spouse [NCGM ID-30207400395].

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