ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2002A>G (p.Ser668Gly)

gnomAD frequency: 0.00001  dbSNP: rs774221912
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982221 SCV002214300 uncertain significance Primary dilated cardiomyopathy 2023-03-07 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1433340). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs774221912, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 668 of the NEBL protein (p.Ser668Gly).

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