ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1712T>C (p.Phe571Ser)

gnomAD frequency: 0.00001  dbSNP: rs1326680081
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799578 SCV000939249 uncertain significance Duchenne muscular dystrophy 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 571 of the DMD protein (p.Phe571Ser). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 645493). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DMD protein function with a negative predictive value of 95%. 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.
GeneDx RCV001592984 SCV001822668 likely benign not provided 2018-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397603 SCV002712940 uncertain significance Cardiovascular phenotype 2024-01-11 criteria provided, single submitter clinical testing The p.F571S variant (also known as c.1712T>C), located in coding exon 15 of the DMD gene, results from a T to C substitution at nucleotide position 1712. The phenylalanine at codon 571 is replaced by serine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the C allele has an overall frequency of <0.01% (1/22099) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was 1.7% (1/5951) of African alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274379 SCV001458496 uncertain significance Dystrophin deficiency 2020-09-16 no assertion criteria provided clinical testing

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