ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) (rs770374931)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778195 SCV000914359 uncertain significance Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2018-11-20 criteria provided, single submitter clinical testing The SLC19A2 c.688A>T (p.Ile230Phe) missense variant has been reported in one study in which it is identified in a compound heterozygous state with a second missense variant in one individual with thiamine-responsive megaloblastic anemia syndrome (Bergmann et al. 2009). This variant was absent from 50 controls but is reported at a frequency of 0.000773 in the Other population of the Genome Aggregation Database. Based on the limited evidence, the p.Ile230Phe variant is classified as a variant of unknown significance but suspicious for pathogenicity for thiamine-responsive megaloblastic anemia syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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