ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.22109C>T (p.Thr7370Met) (rs767584361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523984 SCV000621514 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing The T7370M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T7370M variant is observed in 10/30,758 (0.03%) alleles from individuals of South Asian background (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, most reported pathogenic variants in the NEB gene are truncating/loss-of-function.
Invitae RCV000698139 SCV000826782 uncertain significance Nemaline myopathy 2 2018-05-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 7370 of the NEB protein (p.Thr7370Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs767584361, ExAC 0.04%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 452689). 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"). 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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