ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.586G>T (p.Ala196Ser)

gnomAD frequency: 0.00010  dbSNP: rs104894436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000009867 SCV001270723 uncertain significance Dystonia 5 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.
OMIM RCV000009867 SCV000030088 pathogenic Dystonia 5 1999-03-10 no assertion criteria provided literature only

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