ClinVar Miner

Submissions for variant NM_001927.4(DES):c.83C>T (p.Ser28Phe)

gnomAD frequency: 0.00001  dbSNP: rs1954361986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002437062 SCV002680245 uncertain significance Cardiovascular phenotype 2021-09-29 criteria provided, single submitter clinical testing The p.S28F variant (also known as c.83C>T), located in coding exon 1 of the DES gene, results from a C to T substitution at nucleotide position 83. The serine at codon 28 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This variant has been detected in an individual from a dilated cardiomyopathy cohort; however, details were limited (Nguyen TV et al. Circ J, 2021 Aug;85:1469-1478). This amino acid position is well conserved in available vertebrate species. 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.
KTest Genetics, KTest RCV001594450 SCV001499952 likely pathogenic Dilated cardiomyopathy 1I no assertion criteria provided clinical testing

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