ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18870C>A (p.Asn6290Lys)

dbSNP: rs200122580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769030 SCV002002406 uncertain significance not provided 2020-02-11 criteria provided, single submitter clinical testing 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002540482 SCV003454705 likely benign Nemaline myopathy 2 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040256 SCV004978560 uncertain significance Inborn genetic diseases 2023-10-25 criteria provided, single submitter clinical testing The c.13767C>A (p.N4589K) alteration is located in exon 93 (coding exon 91) of the NEB gene. This alteration results from a C to A substitution at nucleotide position 13767, causing the asparagine (N) at amino acid position 4589 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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