ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4973T>A (p.Leu1658His)

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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 RCV002574413 SCV003487193 likely benign Nemaline myopathy 2 2023-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002574414 SCV003565461 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.4973T>A (p.L1658H) alteration is located in exon 41 (coding exon 39) of the NEB gene. This alteration results from a T to A substitution at nucleotide position 4973, causing the leucine (L) at amino acid position 1658 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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