ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.791G>C (p.Trp264Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596686 SCV005088813 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2022-04-21 criteria provided, single submitter clinical testing This variant is predicted to be damaging by in-silico missense prediction tools (SIFT and Polyphen2). The variant seems to be novel, as it has not been previously reported in population or public databases or in the literature. In the family segregation analysis the varinat was found be de novo for the individual in our analysis. Based on ACMG guidelines [PS2 (do novo), PMS (absent from controls/low frequency in population), PP3 (multiple lines of computational evidences)], this variant was classified as 'likely pathogenic'.

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