ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.614A>G (p.Asn205Ser)

dbSNP: rs794729077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183611 SCV000236080 likely benign not specified 2014-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001060842 SCV001225556 uncertain significance Primary dilated cardiomyopathy 2019-02-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 205 of the NEBL protein (p.Asn205Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with NEBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 201898). This variant is not present in population databases (ExAC no frequency).

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