ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.403G>A (p.Gly135Ser)

gnomAD frequency: 0.00001  dbSNP: rs747476629
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490264 SCV000267306 uncertain significance Branchiootorenal syndrome 1 2016-03-18 criteria provided, single submitter reference population
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825655 SCV000967026 uncertain significance not specified 2018-03-07 criteria provided, single submitter clinical testing The p.Gly135Ser variant in EYA1 has been reported in at least Japanese individua l with hearing loss (Miyagawa 2013) and has also been reported in ClinVar (Varia tion ID#225351). This variant has been identified in 0.06% (11/17210) of East As ian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org; dbSNP rs747476629); however the frequency is not high enough to ru le out a pathogenic role. Computational prediction tools and conservation analys is suggest that the p.Gly135Ser variant may impact the protein, though this info rmation is not predictive enough to determine pathogenicity. In summary, the cli nical significance of the p.Gly135Ser variant is uncertain. ACMG/AMP Criteria ap plied: PP3
Illumina Laboratory Services, Illumina RCV001159420 SCV001321134 likely benign Branchiootic syndrome 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001159421 SCV001321135 benign Otofaciocervical syndrome 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001853384 SCV002277349 likely benign Melnick-Fraser syndrome 2022-12-20 criteria provided, single submitter clinical testing
GeneDx RCV002508199 SCV002818025 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing Reported in a patient with branchiootorenal spectrum disorder in published literature (Wu et al., 2019); clinical details for this individual are not available; Reported in multiple patients with hearing loss in published literature (Minyagawa et al., 2013); clinical information for these patients was not available; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34666446, 31738409, 23967202, 31581539)

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