ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.1529_1534del (p.Val510_Tyr511del)

dbSNP: rs2034805106
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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 RCV001224365 SCV001396555 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 1 2022-09-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 952287). This variant, c.1529_1534del, results in the deletion of 2 amino acid(s) of the PIGN protein (p.Val510_Tyr511del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIGN-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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