ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1208T>C (p.Ile403Thr)

gnomAD frequency: 0.00001  dbSNP: rs766378863
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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 RCV000799485 SCV000939149 uncertain significance Primary dilated cardiomyopathy 2022-12-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 645418). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs766378863, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 403 of the NEBL protein (p.Ile403Thr).
Ambry Genetics RCV004027998 SCV003860626 uncertain significance not specified 2023-11-09 criteria provided, single submitter clinical testing The c.1208T>C (p.I403T) alteration is located in exon 12 (coding exon 12) of the NEBL gene. This alteration results from a T to C substitution at nucleotide position 1208, causing the isoleucine (I) at amino acid position 403 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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