ClinVar Miner

Submissions for variant NM_000360.4(TH):c.582C>A (p.Phe194Leu)

gnomAD frequency: 0.00001  dbSNP: rs555133070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877327 SCV001020049 likely benign Autosomal recessive DOPA responsive dystonia 2025-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004962899 SCV005515053 uncertain significance Inborn genetic diseases 2024-07-05 criteria provided, single submitter clinical testing The c.675C>A (p.F225L) alteration is located in exon 6 (coding exon 6) of the TH gene. This alteration results from a C to A substitution at nucleotide position 675, causing the phenylalanine (F) at amino acid position 225 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000877327 SCV002085410 likely benign Autosomal recessive DOPA responsive dystonia 2020-08-07 no assertion criteria provided clinical testing

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