ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.173C>T (p.Ser58Phe)

gnomAD frequency: 0.00003  dbSNP: rs781797234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre RCV001376155 SCV001548553 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001376155 SCV002247671 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001376155 SCV002790463 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365355 SCV004054997 uncertain significance Cardiovascular phenotype 2023-07-17 criteria provided, single submitter clinical testing The p.S58F variant (also known as c.173C>T), located in coding exon 2 of the EMD gene, results from a C to T substitution at nucleotide position 173. The serine at codon 58 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This alteration has been reported in an Emery-Dreifuss muscular dystrophy cohort; however, clinical details were limited (Kovalchuk T et al. Front Cardiovasc Med, 2021 May;8:668231). Based on data from gnomAD, the T allele has an overall frequency of 0.0018% (3/171015) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0075% (2/26696) of Latino alleles. This amino acid position is highly 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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