ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.572T>C (p.Met191Thr)

gnomAD frequency: 0.00002  dbSNP: rs782244432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309088 SCV001498570 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350560 SCV002649658 uncertain significance Cardiovascular phenotype 2021-10-21 criteria provided, single submitter clinical testing The p.M191T variant (also known as c.572T>C), located in coding exon 6 of the EMD gene, results from a T to C substitution at nucleotide position 572. The methionine at codon 191 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.002% (3/183126) total alleles studied, with 2 hemizygotes observed. The highest observed frequency was 0.004% (3/818780) of European (non-Finnish alleles). This amino acid position is poorly 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.
Natera, Inc. RCV001835515 SCV002084699 uncertain significance Emery-Dreifuss muscular dystrophy 2021-08-05 no assertion criteria provided clinical testing

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