ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.319A>G (p.Ser107Gly)

gnomAD frequency: 0.00013  dbSNP: rs113927216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003151781 SCV003840311 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV000509304 SCV000607228 not provided Thiamine-responsive megaloblastic anemia no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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