ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11900A>G (p.Asn3967Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067763 SCV001232842 uncertain significance Nemaline myopathy 2 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 3967 of the NEB protein (p.Asn3967Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs376194864, ExAC 0.05%). This variant has not been reported in the literature in individuals with NEB-related conditions. 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. RCV001067763 SCV001459396 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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