ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.491dup (p.Leu164fs)

dbSNP: rs1951857498
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001090173 SCV001197265 pathogenic Aicardi-Goutieres syndrome 2 2020-04-06 criteria provided, single submitter clinical testing In trans (segregation verified) with recurrent mutation c.529G>A in exon 7. Not reported to date in gnomAD or ExAC. Frameshift with premature stop codon.

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