ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2959A>G (p.Ile987Val)

gnomAD frequency: 0.00001  dbSNP: rs746298728
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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 RCV000226801 SCV000289532 uncertain significance Primary dilated cardiomyopathy 2022-11-28 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 240651). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs746298728, gnomAD 0.009%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 987 of the NEBL protein (p.Ile987Val).
Ambry Genetics RCV004827768 SCV005457556 uncertain significance not specified 2024-12-07 criteria provided, single submitter clinical testing The c.2959A>G (p.I987V) alteration is located in exon 28 (coding exon 28) of the NEBL gene. This alteration results from a A to G substitution at nucleotide position 2959, causing the isoleucine (I) at amino acid position 987 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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