ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.480G>A (p.Lys160=)

gnomAD frequency: 0.00001  dbSNP: rs759194196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001419761 SCV001622022 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341457 SCV002634762 benign Inborn genetic diseases 2018-11-15 criteria provided, single submitter clinical testing This alteration is classified as 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.

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