ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.177A>G (p.Ile59Met)

gnomAD frequency: 0.00002  dbSNP: rs1057518968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415295 SCV000493035 likely pathogenic Cardiac arrhythmia; Noncompaction cardiomyopathy 2013-12-13 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001214045 SCV001368765 likely pathogenic Left ventricular noncompaction 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001214045 SCV001385708 uncertain significance Left ventricular noncompaction 1 2019-09-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 59 of the DTNA protein (p.Ile59Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 374197). This variant is not present in population databases (ExAC no frequency).

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