ClinVar Miner

Submissions for variant NM_006397.2(RNASEH2A):c.635A>T (p.Asn212Ile) (rs377244188)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000056306 SCV000915817 uncertain significance Aicardi Goutieres syndrome 4 2017-04-28 criteria provided, single submitter clinical testing The RNASEH2A c.635A>T (p.Asn212Ile) variant has been reported in one individual with Aicardi-Goutieres syndrome in a compound heterozygous state (Rice et al. 2013). The p.Asn212Ile variant was absent from 100 control alleles and is reported at a frequency of 0.0005247 in the European (non-Finnish) population of the Exome Aggregation Consortium. The recombinant p.Asn212Ile variant protein did not have any effect on the catalytic activity although it did cause a small reduction in substrate binding affinity (Coffin et al. 2011). The evidence for this variant is limited. The p.Asn212Ile variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for Aicardi-Goutieres syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000056306 SCV000087475 pathogenic Aicardi Goutieres syndrome 4 2011-05-13 no assertion criteria provided literature only

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