ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.1395-3T>C

gnomAD frequency: 0.00038  dbSNP: rs374833540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595279 SCV000708526 uncertain significance not provided 2017-05-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333631 SCV001526278 uncertain significance Autosomal recessive nonsyndromic hearing loss 84B 2018-09-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000595279 SCV002299684 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 501971). This variant has not been reported in the literature in individuals affected with OTOGL-related conditions. This variant is present in population databases (rs374833540, gnomAD 0.09%). This sequence change falls in intron 13 of the OTOGL gene. It does not directly change the encoded amino acid sequence of the OTOGL protein. It affects a nucleotide within the consensus splice site.

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