ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2897G>T (p.Ser966Ile)

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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 RCV002958639 SCV003278837 uncertain significance Primary dilated cardiomyopathy 2022-01-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs760526573, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 966 of the NEBL protein (p.Ser966Ile).
Ambry Genetics RCV004827914 SCV005457525 uncertain significance not specified 2024-10-28 criteria provided, single submitter clinical testing The p.S966I variant (also known as c.2897G>T), located in coding exon 28 of the NEBL gene, results from a G to T substitution at nucleotide position 2897. The serine at codon 966 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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