Submissions for variant NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001063278	SCV001228116	uncertain significance	D-2-hydroxyglutaric aciduria 1	2019-03-29	criteria provided, single submitter	clinical testing	This sequence change replaces cysteine with tyrosine at codon 172 of the D2HGDH protein (p.Cys172Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs773735172, ExAC 0.003%). This variant has been observed in an individual affected with D-2-Hydroxyglutaric aciduria (PMID: 20020533). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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