ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8897A>G (p.Tyr2966Cys) (rs1560822452)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700083 SCV000828823 uncertain significance Nemaline myopathy 2 2018-09-25 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 2966 of the NEB protein (p.Tyr2966Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another NEB variant in an individual 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.

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