ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.12251A>G (p.Asn4084Ser) (rs761668198)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808419 SCV000948528 uncertain significance Nemaline myopathy 2 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 4084 of the NEB protein (p.Asn4084Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs761668198, ExAC 0.009%). This variant has not been reported in the literature in individuals with NEB-related disease. 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. RCV000808419 SCV001459394 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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