ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys)

gnomAD frequency: 0.00001  dbSNP: rs768826001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481142 SCV000573949 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing The R7501C variant in the NEB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 3/16,512 alleles (0.02%) from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The R7501C 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. In addition, this substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R7501C as a variant of uncertain significance.
Invitae RCV001829387 SCV003521385 likely benign Nemaline myopathy 2 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829387 SCV002084036 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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