ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.449+5G>A

gnomAD frequency: 0.00003  dbSNP: rs370840449
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183442 SCV000235902 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID #201773; Landrum et al., 2016); Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV000804499 SCV000944411 likely benign X-linked Emery-Dreifuss muscular dystrophy 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326991 SCV002635374 uncertain significance Cardiovascular phenotype 2024-05-17 criteria provided, single submitter clinical testing The c.449+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 5 in the EMD gene. Based on data from gnomAD, the A allele has an overall frequency of 0.0027% (5/183318) total alleles studied, with 3 hemizygote(s) observed. The highest observed frequency was 0.0221% (1/4531) of 'Other' alleles. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000804499 SCV002792042 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271616 SCV001452892 uncertain significance Emery-Dreifuss muscular dystrophy 2020-09-16 no assertion criteria provided clinical testing

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