ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7652C>T (p.Thr2551Met)

gnomAD frequency: 0.00001  dbSNP: rs778691311
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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 RCV001066529 SCV001231542 uncertain significance Duchenne muscular dystrophy 2022-02-09 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 2551 of the DMD protein (p.Thr2551Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 860254). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Natera, Inc. RCV001271298 SCV001452376 uncertain significance Dystrophin deficiency 2020-09-16 no assertion criteria provided clinical testing

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