ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.832A>G (p.Ile278Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002430450 SCV002677141 uncertain significance Cardiovascular phenotype 2021-02-02 criteria provided, single submitter clinical testing The p.I278V variant (also known as c.832A>G), located in coding exon 9 of the DMD gene, results from an A to G substitution at nucleotide position 832. This variant impacts the first base pair of coding exon 9. The isoleucine at codon 278 is replaced by valine, an amino acid with highly similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.001% (2/147657) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was 0.003% (2/62737) of (non-Finnish) European alleles. This amino acid position is highly conserved in available 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.
Revvity Omics, Revvity RCV003146549 SCV003829496 uncertain significance not provided 2021-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005097221 SCV005831297 uncertain significance Duchenne muscular dystrophy 2025-01-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 278 of the DMD protein (p.Ile278Val). 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: 1762948). 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. 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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