ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.986T>C (p.Val329Ala)

dbSNP: rs1921924356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335962 SCV001529228 likely pathogenic Paroxysmal nocturnal hemoglobinuria 1 2018-01-02 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
3billion RCV001775167 SCV002012334 likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2 2021-10-02 criteria provided, single submitter clinical testing It is not observed in the gnomAD v2.1.1 dataset (PM2). Missense changes are a common disease-causing mechanism (PP2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.937, 3Cnet: 0.991, PP3). Patient's phenotype is considered compatible with Multiple congenital anomalies-hypotonia-seizures syndrome 2 (3billion dataset, PP4).Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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