ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.566_567delinsTCT (p.Ser189fs)

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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 RCV004596677 SCV005088773 pathogenic Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2022-05-16 criteria provided, single submitter clinical testing This variant has been reported in individuals with thiamine-responsive megaloblastic anemia in homozygous or compound heterozygous state [PMID: 33571483, 21448333, 18614593]. In addition, several other truncating variants lying downstream of the variant, have been previously reported as pathogenic in the ClinVar database context of megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness.

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