ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)

gnomAD frequency: 0.00037  dbSNP: rs144415484
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171949 SCV000055158 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221581 SCV000270202 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing p.Asp327Asn in exon 12 of EYA4: This variant is not expected to have clinical si gnificance because it has been identified in 0.33% (22/6610) of Finnish chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs144415484).
Ambry Genetics RCV000617656 SCV000736785 likely benign Cardiovascular phenotype 2018-11-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000641943 SCV000763593 likely benign Dilated cardiomyopathy 1J 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000171949 SCV001790805 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28831623)
CeGaT Center for Human Genetics Tuebingen RCV000171949 SCV004160331 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing EYA4: BS1
PreventionGenetics, part of Exact Sciences RCV004535166 SCV004748520 benign EYA4-related disorder 2020-03-03 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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