ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.340G>A (p.Val114Met)

gnomAD frequency: 0.00013  dbSNP: rs376117319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002884119 SCV003645563 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The c.340G>A (p.V114M) alteration is located in exon 5 (coding exon 5) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 340, causing the valine (V) at amino acid position 114 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003730300 SCV004522407 benign not provided 2024-02-18 criteria provided, single submitter clinical testing

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