ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.988C>T (p.Arg330Ter) (rs201317502)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414606 SCV000491531 likely pathogenic not provided 2016-06-28 criteria provided, single submitter clinical testing The R330X variant in the PIGT gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R330X variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R330X as a strong candidate for a pathogenic variant; however, the possibility it may be a rare benign variant cannot be excluded.
GenomeConnect, ClinGen RCV000509187 SCV000606985 not provided PIGT-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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