ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter)

dbSNP: rs74315374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512828 SCV003523977 pathogenic not provided 2022-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 5958). This premature translational stop signal has been observed in individual(s) with thiamine-responsive megaloblastic anemia (PMID: 10391221). This variant is present in population databases (rs74315374, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp250*) in the SLC19A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC19A2 are known to be pathogenic (PMID: 10391221, 10391223, 10874303).
OMIM RCV000006322 SCV000026504 pathogenic Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 1999-07-01 no assertion criteria provided literature only

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