ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8381A>T (p.Tyr2794Phe) (rs750548574)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810643 SCV000950865 uncertain significance Nemaline myopathy 2 2019-10-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with phenylalanine at codon 2794 of the NEB protein (p.Tyr2794Phe). The tyrosine residue is moderately conserved and there is a small physicochemical difference between tyrosine and phenylalanine. This variant is present in population databases (rs750548574, ExAC 0.003%). This variant has been observed in several individuals affected with nemaline myopathy (PMID: 25205138). 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. RCV000810643 SCV001463529 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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