ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) (rs201504674)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595354 SCV000708067 uncertain significance not provided 2017-04-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825755 SCV000967217 likely benign not specified 2018-04-11 criteria provided, single submitter clinical testing The p.Asp289Tyr variant in EYA1 has been reported in 0.02% (30/126700) of Europe an chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org; dbSNP rs201504674). This frequency is too high to cause Branchio-ot o-renal syndrome, which has a prevalence of 1/40,000). Though the variant has be en reported in 1 German proband with renal abnormalities, this individual also h ad additional clinical features that are not consistent with BOR syndrome, and a microdeletion in 14q32 was identified, which is consistent with their phenotype s (Classen 2013). In summary, this variant is likely benign based on its frequen cy in the general population. ACMG/AMP Criteria applied: BS1.
Mendelics RCV000988072 SCV001137644 uncertain significance Otofaciocervical syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001160700 SCV001322521 benign Branchiootic syndrome 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000988072 SCV001322522 benign Otofaciocervical syndrome 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375139 SCV001572100 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PP3_Supporting, BS2_Strong
Gharavi Laboratory,Columbia University RCV000595354 SCV000920746 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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