ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1170C>G (p.Asn390Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002781375 SCV003034566 likely benign Nemaline myopathy 2 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958772 SCV005451805 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.1170C>G (p.N390K) alteration is located in exon 14 (coding exon 12) of the NEB gene. This alteration results from a C to G substitution at nucleotide position 1170, causing the asparagine (N) at amino acid position 390 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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