ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2287G>A (p.Val763Ile)

dbSNP: rs138545671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001355429 SCV004617398 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355429 SCV001550312 uncertain significance not provided no assertion criteria provided clinical testing The OTOF p.Val73Ile variant was not identified in the literature but was identified in dbSNP (ID: rs138545671) and ClinVar (classified as uncertain significance by Laboratory for Molecular Medicine). The variant was identified in control databases in 17 of 280102 chromosomes at a frequency of 0.00006069 (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: African in 10 of 24456 chromosomes (freq: 0.000409), East Asian in 3 of 19934 chromosomes (freq: 0.000151), Other in 1 of 7164 chromosomes (freq: 0.00014) and European (non-Finnish) in 3 of 127336 chromosomes (freq: 0.000024), but was not observed in the Latino, Ashkenazi Jewish, European (Finnish), or South Asian populations. The p.Val73 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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