ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.455T>C (p.Met152Thr)

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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 RCV002948704 SCV003278026 uncertain significance Primary dilated cardiomyopathy 2023-02-27 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 2065814). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs746638649, gnomAD 0.03%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 152 of the NEBL protein (p.Met152Thr).
Ambry Genetics RCV004827915 SCV005457545 uncertain significance not specified 2024-08-19 criteria provided, single submitter clinical testing The c.455T>C (p.M152T) alteration is located in exon 5 (coding exon 5) of the NEBL gene. This alteration results from a T to C substitution at nucleotide position 455, causing the methionine (M) at amino acid position 152 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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