ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.827T>C (p.Met276Thr)

gnomAD frequency: 0.00033  dbSNP: rs141285752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489908 SCV000576533 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing A second variant of uncertain significance has been identified in the NEBL gene. The M276T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 5/10,380 (0.05%) alleles from individuals of African ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). This substitution occurs at a position that is not conserved across species and threonine is present as the wild type in at least one mammalian species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Nevertheless, the M276T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088677 SCV000749709 likely benign Primary dilated cardiomyopathy 2023-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023238 SCV002679176 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The c.827T>C (p.M276T) alteration is located in exon 9 (coding exon 9) of the NEBL gene. This alteration results from a T to C substitution at nucleotide position 827, causing the methionine (M) at amino acid position 276 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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