Submissions for variant NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr) (rs745832151)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000557570	SCV000657835	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-04-18	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with tyrosine at codon 36 of the NDRG1 protein (p.Asp36Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs745832151, ExAC 0.001%). This variant has not been reported in the literature in individuals with NDRG1-related disease. ClinVar contains an entry for this variant (Variation ID: 476842). 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: "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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