ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe)

gnomAD frequency: 0.00032  dbSNP: rs557079751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333067 SCV001525552 uncertain significance Autosomal recessive nonsyndromic hearing loss 18B 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001865773 SCV002108192 uncertain significance not provided 2022-03-10 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1031279). This variant has not been reported in the literature in individuals affected with OTOG-related conditions. This variant is present in population databases (rs557079751, gnomAD 0.09%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1839 of the OTOG protein (p.Ser1839Phe).

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