ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4354A>C (p.Ile1452Leu)

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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 RCV002585038 SCV003489288 likely benign Nemaline myopathy 2 2023-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004073386 SCV004979166 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.4354A>C (p.I1452L) alteration is located in exon 38 (coding exon 36) of the NEB gene. This alteration results from a A to C substitution at nucleotide position 4354, causing the isoleucine (I) at amino acid position 1452 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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