ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1244A>C (p.Asp415Ala)

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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 RCV003619593 SCV004518633 uncertain significance Primary dilated cardiomyopathy 2023-02-01 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 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"). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs766254363, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 415 of the NEBL protein (p.Asp415Ala).
Ambry Genetics RCV004827989 SCV005457553 uncertain significance not specified 2024-12-03 criteria provided, single submitter clinical testing The c.1244A>C (p.D415A) alteration is located in exon 13 (coding exon 13) of the NEBL gene. This alteration results from a A to C substitution at nucleotide position 1244, causing the aspartic acid (D) at amino acid position 415 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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