ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2147C>T (p.Ala716Val)

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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 RCV003087120 SCV003486725 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2022-04-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs767679760, gnomAD 0.01%). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 716 of the DNM2 protein (p.Ala716Val).
Ambry Genetics RCV004073317 SCV004859148 uncertain significance Inborn genetic diseases 2023-11-07 criteria provided, single submitter clinical testing The c.2147C>T (p.A716V) alteration is located in exon 19 (coding exon 19) of the DNM2 gene. This alteration results from a C to T substitution at nucleotide position 2147, causing the alanine (A) at amino acid position 716 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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