ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr)

gnomAD frequency: 0.00008  dbSNP: rs577939684
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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 RCV000703035 SCV000831915 benign Nemaline myopathy 2 2023-12-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133559 SCV003809600 uncertain significance not provided 2019-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165888 SCV003880261 uncertain significance Inborn genetic diseases 2023-03-13 criteria provided, single submitter clinical testing The c.1285G>T (p.D429Y) alteration is located in exon 15 (coding exon 13) of the NEB gene. This alteration results from a G to T substitution at nucleotide position 1285, causing the aspartic acid (D) at amino acid position 429 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000703035 SCV002077832 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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