ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr)

gnomAD frequency: 0.00001  dbSNP: rs756130763
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245726 SCV001419029 benign Nemaline myopathy 2 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003263894 SCV003954667 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.6388G>A (p.A2130T) alteration is located in exon 49 (coding exon 47) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 6388, causing the alanine (A) at amino acid position 2130 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003311967 SCV004011204 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing NEB: PM2, BP4
Natera, Inc. RCV001245726 SCV002079679 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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