ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu)

gnomAD frequency: 0.00004  dbSNP: rs777231395
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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 RCV001071005 SCV001236286 benign Nemaline myopathy 2 2023-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554612 SCV003725565 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.7387A>T (p.M2463L) alteration is located in exon 54 (coding exon 52) of the NEB gene. This alteration results from a A to T substitution at nucleotide position 7387, causing the methionine (M) at amino acid position 2463 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001071005 SCV001457010 uncertain significance Nemaline myopathy 2 2020-03-10 no assertion criteria provided clinical testing

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