ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2012C>T (p.Pro671Leu)

gnomAD frequency: 0.00004  dbSNP: rs770107953
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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 RCV000460337 SCV000553744 uncertain significance Primary dilated cardiomyopathy 2023-07-07 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 412262). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 671 of the NEBL protein (p.Pro671Leu). This variant is present in population databases (rs770107953, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with NEBL-related conditions.
Ambry Genetics RCV004022901 SCV002722953 uncertain significance not specified 2024-08-31 criteria provided, single submitter clinical testing The p.P671L variant (also known as c.2012C>T), located in coding exon 20 of the NEBL gene, results from a C to T substitution at nucleotide position 2012. The proline at codon 671 is replaced by leucine, an amino acid with similar 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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