ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17833G>A (p.Val5945Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002637537 SCV003514730 likely benign Nemaline myopathy 2 2023-07-19 criteria provided, single submitter clinical testing
GeneDx RCV004725558 SCV005332877 uncertain significance not provided 2024-03-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004961135 SCV005451788 uncertain significance Inborn genetic diseases 2024-09-09 criteria provided, single submitter clinical testing The c.12730G>A (p.V4244I) alteration is located in exon 86 (coding exon 84) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 12730, causing the valine (V) at amino acid position 4244 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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