ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.470G>A (p.Arg157Gln)

gnomAD frequency: 0.00009  dbSNP: rs148515772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003103716 SCV000052342 uncertain significance not specified 2023-01-06 criteria provided, single submitter clinical testing Variant summary: EMD c.470G>A (p.Arg157Gln) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.2e-05 in 183002 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in EMD causing Cardiomyopathy (8.2e-05 vs 0.0071), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.470G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000686102 SCV000813605 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492301 SCV003833441 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2023-10-17 criteria provided, single submitter clinical testing

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