ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys)

dbSNP: rs727503002
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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 RCV000150571 SCV000197826 uncertain significance not specified 2014-07-03 criteria provided, single submitter clinical testing The Glu1575Lys variant in DSP has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of the Glu1575Lys varian t is uncertain.
Ambry Genetics RCV002336297 SCV002637727 uncertain significance Cardiovascular phenotype 2021-04-16 criteria provided, single submitter clinical testing The p.E1575K variant (also known as c.4723G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 4723. The glutamic acid at codon 1575 is replaced by lysine, an amino acid with similar properties. This amino acid position is not 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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