ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal) (rs1573936944)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812909 SCV000953239 uncertain significance Nemaline myopathy 2 2018-11-08 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 3603 and replaces isoleucine with valine at codon 3604 of the NEB protein (p.Trp3603_Ile3604delinsCysVal). The tryptophan residue at codon 3603 is moderately conserved and there is a large physicochemical difference between tryptophan and cysteine. The isoleucine residue at codon 3604 is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (ExAC 0.002%). This variant has not been reported in the literature in individuals with NEB-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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