ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)

gnomAD frequency: 0.00099  dbSNP: rs138141474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155247 SCV000204933 benign not specified 2017-07-05 criteria provided, single submitter clinical testing p.Val508Ala in exon 14 of OTOA: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote 8 mammals have an alanine (Ala) at this position despite high nearby amino a cid conservation. In addition, computational analyses do not suggest a high like lihood of impact to the protein. This variant has been identified in 1% (110/101 40) of Ashkenazi Jewish chromosomes including 1 homozygote by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs138141474).
GeneDx RCV000842420 SCV000984440 benign not provided 2019-11-26 criteria provided, single submitter clinical testing
Invitae RCV000842420 SCV002395496 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477863 SCV000536824 uncertain significance Autosomal recessive nonsyndromic hearing loss 22 2015-11-03 no assertion criteria provided research

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