ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.7778T>C (p.Phe2593Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041820 SCV001205461 uncertain significance Nemaline myopathy 2 2019-10-31 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 2593 of the NEB protein (p.Phe2593Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs370615288, ExAC 0.05%). This variant has not been reported in the literature in individuals with NEB-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: "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.
Natera, Inc. RCV001041820 SCV001457006 uncertain significance Nemaline myopathy 2 2020-02-13 no assertion criteria provided clinical testing

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