ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) (rs375894183)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001289035 SCV000728898 likely benign not provided 2020-01-09 criteria provided, single submitter clinical testing
Invitae RCV000707620 SCV000836721 uncertain significance Nemaline myopathy 2 2019-09-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 847 of the NEB protein (p.Asp847Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs375894183, ExAC 0.03%). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 516250). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Athena Diagnostics Inc RCV001289035 SCV001476573 uncertain significance not provided 2020-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000707620 SCV001452185 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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