ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.1489dup (p.Ser497fs)

dbSNP: rs1577094794
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819047 SCV000959688 pathogenic Intellectual disability, autosomal recessive 53 2018-08-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PIGG are known to be pathogenic (PMID: 26996948, 28581210, 28771251). This variant has not been reported in the literature in individuals with PIGG-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser497Phefs*106) in the PIGG gene. It is expected to result in an absent or disrupted protein product.

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