ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.543C>T (p.Gly181=)

gnomAD frequency: 0.00010  dbSNP: rs555886273
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554212 SCV000655470 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2025-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316581 SCV000850161 likely benign Inborn genetic diseases 2016-08-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV001637085 SCV001848043 benign not provided 2019-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980023 SCV004795515 likely benign PURA-related disorder 2019-03-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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