ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.321C>T (p.Ala107=)

gnomAD frequency: 0.00187  dbSNP: rs149139260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551575 SCV000655467 benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316580 SCV000850188 likely benign Inborn genetic diseases 2016-09-12 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 RCV001637084 SCV001849012 benign not provided 2018-09-14 criteria provided, single submitter clinical testing

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