ClinVar Miner

Submissions for variant NM_004186.5(SEMA3F):c.1849G>A (p.Val617Met)

gnomAD frequency: 0.00004  dbSNP: rs1399111219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375120 SCV001572033 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
PreventionGenetics, part of Exact Sciences RCV004746361 SCV005354790 uncertain significance SEMA3F-related disorder 2024-09-12 no assertion criteria provided clinical testing The SEMA3F c.1849G>A variant is predicted to result in the amino acid substitution p.Val617Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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