ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)

gnomAD frequency: 0.00001  dbSNP: rs533568822
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Total submissions: 4
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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) RCV000149520 SCV000153678 likely pathogenic Meniere disease 2014-05-09 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV001508826 SCV001715220 uncertain significance not provided 2020-03-19 criteria provided, single submitter clinical testing
GeneDx RCV001508826 SCV002005595 likely benign not provided 2020-06-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25305078, 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV001849917 SCV002293545 uncertain significance Left ventricular noncompaction 1 2024-12-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 715 of the DTNA protein (p.Val715Phe). This variant is present in population databases (rs533568822, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with DTNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 140609). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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