ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del)

dbSNP: rs761730239
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699858 SCV000828588 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311990 SCV000847068 likely benign Inborn genetic diseases 2017-09-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001551072 SCV001771498 likely benign not provided 2021-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001551072 SCV004164251 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PURA: BP3

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