ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser) (rs77826191)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000283474 SCV000417038 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000494281 SCV000581729 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing The R633S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R633S variant is observed in 49/7604 (0.6%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. However, this variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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