ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile)

gnomAD frequency: 0.00001  dbSNP: rs772777667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037975 SCV001201413 uncertain significance Non-ketotic hyperglycinemia 2022-01-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 606 of the GLDC protein (p.Thr606Ile). This variant is present in population databases (rs772777667, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GLDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 836777). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GLDC protein function. 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.
Natera, Inc. RCV001037975 SCV002075758 uncertain significance Non-ketotic hyperglycinemia 2021-02-09 no assertion criteria provided clinical testing

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