ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4075A>G (p.Met1359Val)

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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 RCV002580361 SCV002933435 likely benign Nemaline myopathy 2 2023-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002580360 SCV003569719 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.4075A>G (p.M1359V) alteration is located in exon 37 (coding exon 35) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 4075, causing the methionine (M) at amino acid position 1359 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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