ClinVar Miner

Submissions for variant NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)

gnomAD frequency: 0.00001  dbSNP: rs769399113
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000724318 SCV005412823 uncertain significance not provided 2024-02-15 criteria provided, single submitter clinical testing
New York Genome Center RCV001542329 SCV001761015 uncertain significance Progressive demyelinating neuropathy with bilateral striatal necrosis 2020-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724318 SCV001683853 likely benign not provided 2026-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765393 SCV000896667 uncertain significance Amish lethal microcephaly; Progressive demyelinating neuropathy with bilateral striatal necrosis 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000724318 SCV000565570 uncertain significance not provided 2022-05-24 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
Eurofins Ntd Llc (ga) RCV000724318 SCV000231777 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing

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