ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.6200C>T (p.Thr2067Met) (rs1405599353)

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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 RCV000618265 SCV000736107 uncertain significance Cardiovascular phenotype 2017-11-16 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001052071 SCV001216261 uncertain significance Duchenne muscular dystrophy 2020-01-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 2067 of the DMD protein (p.Thr2067Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with left ventricular hypertrabeculation (PMID: 28798025). This variant is also described as Thr2063Met in the literature. ClinVar contains an entry for this variant (Variation ID: 518745). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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