ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.677G>C (p.Trp226Ser)

gnomAD frequency: 0.00003  dbSNP: rs141732118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871327 SCV002157047 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002361162 SCV002666233 uncertain significance Cardiovascular phenotype 2023-11-10 criteria provided, single submitter clinical testing The p.W226S variant (also known as c.677G>C), located in coding exon 6 of the EMD gene, results from a G to C substitution at nucleotide position 677. The tryptophan at codon 226 is replaced by serine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.002% (4/182759) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.015% (2/81468) of European (non-Finnish) 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.

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