ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18115G>A (p.Asp6039Asn) (rs377076154)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555057 SCV000640614 uncertain significance Nemaline myopathy 2 2019-05-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 6039 of the NEB protein (p.Asp6039Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs377076154, ExAC 0.003%). This variant has not been reported in the literature in individuals with an NEB-related disease. In summary, this variant has uncertain impact on NEB function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000555057 SCV001454693 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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