ClinVar Miner

Submissions for variant NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) (rs77103971)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000056305 SCV000147910 pathogenic Aicardi Goutieres syndrome 4 2014-03-13 no assertion criteria provided literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000610608 SCV000731588 likely pathogenic Aicardi Goutieres syndrome 2017-03-21 criteria provided, single submitter clinical testing The p.Arg186Trp (NM_006397.2 c.556C>T) variant in RNASEH2A has been reported in at least 3 individuals with Aicardi- Goutieres (Rice 2007, Ramantani 2010, and R ice 2013). This variant has been identified in 0.006% (1/17,248) of East Asian c hromosomes by the Genomic Aggregation Database (gnomAD, http://gnomad.broadinsti tute.org/ rs77103971). Although this variant has been seen in the general popula tion, its frequency is consistent with recessive carrier frequency. In vitro fun ctional studies provide supporting evidence that the p.Arg196Trp variant may imp act protein function (Coffin 2011). In summary, this variant meets criteria to b e classified as likely pathogenic for Aicardi- Goutieres syndrome in an autosoma l recessive manner based upon biallelic case observations, supporting functional studies and consistent frequency in the general population.
OMIM RCV000056305 SCV000087474 pathogenic Aicardi Goutieres syndrome 4 2007-10-01 no assertion criteria provided literature only

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