ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val)

gnomAD frequency: 0.00002  dbSNP: rs755853362
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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 RCV000819952 SCV000960640 likely benign Nemaline myopathy 2 2024-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958164 SCV005451817 uncertain significance Inborn genetic diseases 2024-07-26 criteria provided, single submitter clinical testing The c.6145A>G (p.I2049V) alteration is located in exon 48 (coding exon 46) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 6145, causing the isoleucine (I) at amino acid position 2049 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000819952 SCV001461134 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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