Submissions for variant NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000702413	SCV000831266	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	2018-11-15	criteria provided, single submitter	clinical testing	This sequence change replaces tyrosine with cysteine at codon 340 of the B3GALNT2 protein (p.Tyr340Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs773864097, ExAC 0.01%). This variant has not been reported in the literature in individuals with B3GALNT2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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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