ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.981+4A>G

dbSNP: rs1921929282
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270775 SCV001451530 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 2 2020-06-10 criteria provided, single submitter clinical testing The PIGA c.981+4A>G variant is a splice region variant that may result in the loss of a splice donor site. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of acceptable sequencing coverage, so the variant is presumed to be rare. Based on the limited evidence, the c.981+4A>G variant is classified as a variant of uncertain significance for multiple congenital anomalies-hypotonia-seizures syndrome 2.

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