ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2155T>G (p.Tyr719Asp)

dbSNP: rs1427758049
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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 RCV000693284 SCV000821146 uncertain significance Primary dilated cardiomyopathy 2020-06-07 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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 with NEBL-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with aspartic acid at codon 719 of the NEBL protein (p.Tyr719Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid.
Ambry Genetics RCV004025149 SCV002727226 uncertain significance not specified 2024-03-15 criteria provided, single submitter clinical testing The c.2155T>G (p.Y719D) alteration is located in exon 22 (coding exon 22) of the NEBL gene. This alteration results from a T to G substitution at nucleotide position 2155, causing the tyrosine (Y) at amino acid position 719 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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