ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.725del (p.Pro242fs)

dbSNP: rs1571537544
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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 RCV003555937 SCV004293790 pathogenic not provided 2023-09-19 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: 5956). This premature translational stop signal has been observed in individual(s) with thiamine-responsive megaloblastic anemia (PMID: 10391221). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro242Glnfs*18) 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 RCV000006320 SCV000026502 pathogenic Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 1999-07-01 no assertion criteria provided literature only

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