ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1159A>G (p.Met387Val)

gnomAD frequency: 0.00004  dbSNP: rs770202940
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229822 SCV000288039 likely benign Duchenne muscular dystrophy 2023-12-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725621 SCV000338229 uncertain significance not provided 2016-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000725621 SCV000617156 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000404721 SCV000731549 uncertain significance not specified 2017-03-06 criteria provided, single submitter clinical testing The p.Met387Val variant has not been previously reported in individuals with myo pathy, but has been reported in ClinVar (Variation ID# 239598). This variant has been identified in 6/90307 European chromosomes, including one hemizygote, by t he Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs770202940). The affected amino acid is not well conserved in evolution with 5 fish species carrying a valine (Val), but computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Met387Val variant is uncertain.
Ambry Genetics RCV003165632 SCV003868492 uncertain significance Cardiovascular phenotype 2023-02-06 criteria provided, single submitter clinical testing The p.M387V variant (also known as c.1159A>G), located in coding exon 11 of the DMD gene, results from an A to G substitution at nucleotide position 1159. The methionine at codon 387 is replaced by valine, an amino acid with highly similar properties. Based on data from gnomAD, the G allele has an overall frequency of <0.01% (8/204746) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was <0.01% (8/92345) of European (non-Finnish) alleles. This amino acid position is well 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.

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