ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.1112C>G (p.Ala371Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004956724 SCV005460669 uncertain significance Inborn genetic diseases 2024-11-23 criteria provided, single submitter clinical testing The c.1112C>G (p.A371G) alteration is located in exon 12 (coding exon 12) of the OTOA gene. This alteration results from a C to G substitution at nucleotide position 1112, causing the alanine (A) at amino acid position 371 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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