ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.*86G>T (rs745685639)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669169 SCV000793891 uncertain significance Non-ketotic hyperglycinemia 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV000669169 SCV001421894 uncertain significance Non-ketotic hyperglycinemia 2019-02-05 criteria provided, single submitter clinical testing This sequence change falls in the 3'UTR of the AMT gene. It does not directly change the encoded amino acid sequence of the AMT protein. This variant is present in population databases (rs745685639, ExAC 0.04%). This variant has not been reported in the literature in individuals with AMT-related conditions. ClinVar contains an entry for this variant (Variation ID: 553667). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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