ClinVar Miner

Submissions for variant NM_173353.4(TPH2):c.616C>T (p.Pro206Ser)

gnomAD frequency: 0.00107  dbSNP: rs17110563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001113238 SCV001270996 uncertain significance Tryptophan 5-monooxygenase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002476916 SCV002793634 uncertain significance Major depressive disorder; Attention deficit-hyperactivity disorder, susceptibility to, 7 2021-12-09 criteria provided, single submitter clinical testing
OMIM RCV000003314 SCV000023472 risk factor Bipolar affective disorder, susceptibility to 2008-04-01 no assertion criteria provided literature only

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