ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.752C>G (p.Pro251Arg) (rs770999859)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666903 SCV000791275 uncertain significance Non-ketotic hyperglycinemia 2017-05-15 criteria provided, single submitter clinical testing
Invitae RCV000666903 SCV000828108 uncertain significance Non-ketotic hyperglycinemia 2018-12-30 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 251 of the AMT protein (p.Pro251Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs770999859, ExAC 0.03%). This variant has been observed in an individual affected with non-syndromic myelomeningocele (PMID: 27620832). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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