ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.2020G>A (p.Val674Ile) (rs775553284)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176307 SCV000227938 uncertain significance not provided 2015-01-28 criteria provided, single submitter clinical testing
Invitae RCV000795154 SCV000934597 uncertain significance Nemaline myopathy 2 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 674 of the NEB protein (p.Val674Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs775553284, ExAC 0.01%). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 195681). 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: "Not Available"; 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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