ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1963C>T (p.Pro655Ser)

gnomAD frequency: 0.00003  dbSNP: rs376509813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003129028 SCV003805112 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003162186 SCV003885800 uncertain significance Inborn genetic diseases 2023-01-06 criteria provided, single submitter clinical testing The c.1963C>T (p.P655S) alteration is located in exon 17 (coding exon 17) of the OTOF gene. This alteration results from a C to T substitution at nucleotide position 1963, causing the proline (P) at amino acid position 655 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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