ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.2288_2289del (p.Tyr763fs)

dbSNP: rs1728769445
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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 RCV001382097 SCV001580727 pathogenic Intellectual disability, autosomal recessive 53 2023-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr763Cysfs*16) in the PIGG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIGG are known to be pathogenic (PMID: 26996948, 28581210, 28771251). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIGG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1070070). For these reasons, this variant has been classified as Pathogenic.

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