ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1442G>A (p.Gly481Asp)

dbSNP: rs564949885
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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 RCV001280408 SCV002356847 likely benign Autosomal recessive DOPA responsive dystonia 2024-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542958 SCV003741655 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.1442G>A (p.G481D) alteration is located in exon 13 (coding exon 13) of the TH gene. This alteration results from a G to A substitution at nucleotide position 1442, causing the glycine (G) at amino acid position 481 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280408 SCV001467587 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-04-11 no assertion criteria provided clinical testing

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