ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1621G>T (p.Asp541Tyr)

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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 RCV003090259 SCV003479229 uncertain significance Primary dilated cardiomyopathy 2022-12-23 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 tolerated. This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 541 of the NEBL protein (p.Asp541Tyr).
Ambry Genetics RCV004073151 SCV005025351 uncertain significance not specified 2023-11-12 criteria provided, single submitter clinical testing The p.D541Y variant (also known as c.1621G>T), located in coding exon 16 of the NEBL gene, results from a G to T substitution at nucleotide position 1621. The aspartic acid at codon 541 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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