ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met)

gnomAD frequency: 0.00004  dbSNP: rs200977103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208334 SCV000263890 uncertain significance Primary dilated cardiomyopathy 2015-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517395 SCV003035277 uncertain significance Left ventricular noncompaction 1 2023-04-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 696 of the DTNA protein (p.Thr696Met). This variant is present in population databases (rs200977103, gnomAD 0.006%). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 222594). This variant has not been reported in the literature in individuals affected with DTNA-related conditions.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528816 SCV001741210 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528816 SCV001929077 uncertain significance not provided no assertion criteria provided clinical testing

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