ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1856TTG[2] (p.Val621del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002414937 SCV002722221 uncertain significance Inborn genetic diseases 2019-12-11 criteria provided, single submitter clinical testing The c.1862_1864delTTG variant (also known as p.V621del) is located in coding exon 14 of the MFN2 gene. This variant results from an in-frame TTG deletion at nucleotide positions 1862 to 1864. This results in the in-frame deletion of a valine at codon 621. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003744050 SCV004551436 uncertain significance Charcot-Marie-Tooth disease type 2 2023-03-22 criteria provided, single submitter clinical testing This variant, c.1862_1864del, results in the deletion of 1 amino acid(s) of the MFN2 protein (p.Val621del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MFN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1781520). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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