ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3119A>G (p.Glu1040Gly)

dbSNP: rs727505147
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156615 SCV000206336 uncertain significance not specified 2014-07-03 criteria provided, single submitter clinical testing The Glu1040Gly variant in DSP has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, tho ugh this information is not predictive enough to determine pathogenicity. In sum mary, the clinical significance of the Glu1040Gly variant is uncertain.
Ambry Genetics RCV002321652 SCV002607393 uncertain significance Cardiovascular phenotype 2022-08-24 criteria provided, single submitter clinical testing The p.E1040G variant (also known as c.3119A>G), located in coding exon 23 of the DSP gene, results from an A to G substitution at nucleotide position 3119. The glutamic acid at codon 1040 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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