ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3331G>A (p.Gly1111Ser)

dbSNP: rs2098390878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222132 SCV001394216 uncertain significance Duchenne muscular dystrophy 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1111 of the DMD protein (p.Gly1111Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DMD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002322075 SCV002606089 uncertain significance Cardiovascular phenotype 2019-08-14 criteria provided, single submitter clinical testing The p.G1111S variant (also known as c.3331G>A), located in coding exon 25 of the DMD gene, results from a G to A substitution at nucleotide position 3331. The glycine at codon 1111 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833925 SCV002085460 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-17 no assertion criteria provided clinical testing

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