ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala)

gnomAD frequency: 0.00003  dbSNP: rs578023308
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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 RCV000692671 SCV000820507 benign Nemaline myopathy 2 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343996 SCV004068743 uncertain significance Inborn genetic diseases 2023-06-22 criteria provided, single submitter clinical testing The c.6325A>G (p.T2109A) alteration is located in exon 49 (coding exon 47) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 6325, causing the threonine (T) at amino acid position 2109 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000692671 SCV001461132 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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