ClinVar Miner

Submissions for variant NM_000360.4(TH):c.263C>T (p.Pro88Leu)

gnomAD frequency: 0.00006  dbSNP: rs150260759
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000368415 SCV000369928 uncertain significance Autosomal recessive DOPA responsive dystonia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000368415 SCV002199102 likely benign Autosomal recessive DOPA responsive dystonia 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV003441835 SCV004169035 uncertain significance not provided 2023-11-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV003441835 SCV005075369 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing TH: PM2, BP4

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