ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.599G>C (p.Gly200Ala)

gnomAD frequency: 0.00002  dbSNP: rs727503336
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151544 SCV000199673 uncertain significance not specified 2014-11-25 criteria provided, single submitter clinical testing The p.Gly200Ala variant in NEBL has been identified by our laboratory in 1 child with infantile-onset DCM and segregated with disease in 2 affected relatives. It has also been identified in 1/67606 European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Gly200Ala variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001850065 SCV002160958 uncertain significance Primary dilated cardiomyopathy 2023-02-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs727503336, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 164763). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 200 of the NEBL protein (p.Gly200Ala).
Ambry Genetics RCV000151544 SCV003950820 uncertain significance not specified 2023-06-06 criteria provided, single submitter clinical testing The c.599G>C (p.G200A) alteration is located in exon 7 (coding exon 7) of the NEBL gene. This alteration results from a G to C substitution at nucleotide position 599, causing the glycine (G) at amino acid position 200 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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