ClinVar Miner

Submissions for variant NM_002506.2(NGF):c.680C>A (p.Thr227Lys) (rs1326012011)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055668 SCV001220068 uncertain significance Congenital sensory neuropathy with selective loss of small myelinated fibers 2019-01-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 227 of the NGF protein (p.Thr227Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NGF-related conditions. 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: 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.
Inherited Neuropathy Consortium RCV000789667 SCV000929041 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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