Submissions for variant NM_004006.3(DMD):c.3875C>T (p.Thr1292Ile)

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Minimum conflict level: Report conflict between different conditions
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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	RCV000824332	SCV000965226	uncertain significance	Duchenne muscular dystrophy	2018-08-01	criteria provided, single submitter	clinical testing	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 not been reported in the literature in individuals with DMD-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 1292 of the DMD protein (p.Thr1292Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
Natera, Inc.	RCV001825675	SCV002085395	uncertain significance	Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency	2021-10-01	no assertion criteria provided	clinical testing

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