ClinVar Miner

Submissions for variant NM_001384900.1(SEMA3D):c.1738C>T (p.Pro580Ser)

dbSNP: rs1057519374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) RCV000416605 SCV000266468 pathogenic Progressive sensorineural hearing impairment 2016-03-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004748659 SCV005355891 uncertain significance SEMA3D-related disorder 2024-01-09 no assertion criteria provided clinical testing The SEMA3D c.1738C>T variant is predicted to result in the amino acid substitution p.Pro580Ser. This variant along with several variants in other genes was reported in a family with Ménière's disease (Table 1, Martín-Sierra et al 2017. PubMed ID: 27876815). This variant has not been reported in a large population database, indicating this variant is rare. 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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