ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met)

gnomAD frequency: 0.00007  dbSNP: rs767584361
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Total submissions: 3
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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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000698139 SCV000826782 benign Nemaline myopathy 2 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000698139 SCV001456481 uncertain significance Nemaline myopathy 2 2020-03-17 no assertion criteria provided clinical testing

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