ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10987C>T (p.Arg3663Cys)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003090887 SCV003469553 likely benign Nemaline myopathy 2 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003075399 SCV003591324 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.10258C>T (p.R3420C) alteration is located in exon 71 (coding exon 69) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 10258, causing the arginine (R) at amino acid position 3420 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003134629 SCV003812260 uncertain significance not provided 2023-10-26 criteria provided, single submitter clinical testing
GeneDx RCV003134629 SCV005371645 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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