ClinVar Miner

Submissions for variant NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln)

gnomAD frequency: 0.00001  dbSNP: rs762765702
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Medical Center Freiburg RCV000490814 SCV000576469 pathogenic Autosomal recessive congenital ichthyosis 2 2016-07-01 criteria provided, single submitter clinical testing In a 3-year-old Turkish girl with autosomal recessive congenital ichthyosis manifesting as congenital ichthyosiform erythroderma (ARCI2; 242100), we identified compound heterozygosity for the insertion p.Met122Asnfs*73 and the missense mutation p.Arg274Gln.
OMIM RCV000495827 SCV000583584 pathogenic Ichthyosis, congenital, autosomal recessive 14 2017-07-13 no assertion criteria provided literature only

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