ClinVar Miner

Submissions for variant NM_016616.5(NME8):c.177_178delinsTA (p.Glu60Lys)

dbSNP: rs1784427170
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038083 SCV001201529 uncertain significance Primary ciliary dyskinesia 6 2019-03-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 60 of the NME8 protein (p.Glu60Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is reported as two separate entries in the ExAC population database (c.177C>T, 37.30% and c.178G>A, 0.006%). This variant has not been reported in the literature in individuals with NME8-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: "Possibly 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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