ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12074G>T (p.Ser4025Ile)

gnomAD frequency: 0.00006  dbSNP: rs767858255
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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 RCV000530326 SCV000640512 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002526135 SCV003737452 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.11345G>T (p.S3782I) alteration is located in exon 78 (coding exon 76) of the NEB gene. This alteration results from a G to T substitution at nucleotide position 11345, causing the serine (S) at amino acid position 3782 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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