ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.166G>A (p.Ala56Thr)

gnomAD frequency: 0.00005  dbSNP: rs1057520579
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422963 SCV000516120 uncertain significance not provided 2024-06-24 criteria provided, single submitter clinical testing Identified in a patient who met Task Force criteria for ARVC who also harbors a pathogenic variant in the PLN gene (PMID: 30763825); A published functional study suggests p.(A56T) may play a role in Plakoglobin, SAP97, and GSK3B distribution observed in intercalated disks (PMID: 30763825); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30763825)
Labcorp Genetics (formerly Invitae), Labcorp RCV000537218 SCV000636281 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402135 SCV002708501 likely benign Cardiovascular phenotype 2024-04-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001828405 SCV002084675 uncertain significance Emery-Dreifuss muscular dystrophy 2021-09-08 no assertion criteria provided clinical testing

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