ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.1739-89_1739-85del

dbSNP: rs1293390303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571667 SCV001796179 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation as the last 43 amino acids are lost and replaced with 8 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Occurs in an alternate transcript where no variants have been reported in the Human Gene Mutation Database in association with EYA4-related disorders (Stenson et al., 2014)
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004584919 SCV005073747 pathogenic Autosomal dominant nonsyndromic hearing loss 10 2024-05-08 criteria provided, single submitter research A frameshit variant in a known dominant deafness gene in which allframeshifts known variants are pathogenic

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