ClinVar Miner

Submissions for variant NM_152468.5(TMC8):c.1525A>G (p.Ile509Val)

gnomAD frequency: 0.00001  dbSNP: rs1002160081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768341 SCV000899032 uncertain significance Epidermodysplasia verruciformis, susceptibility to, 1 2018-12-03 criteria provided, single submitter clinical testing TMC8 NM_152468.4 exon12 p.Ile509Val (c.1525A>G): This variant has not been reported in the literature but is present in 0.01% (1/16178) of African alleles in in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/17-76134261-A-G). This variant amino acid Valine (Val) is present in several species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224462 SCV003920569 uncertain significance Epidermodysplasia verruciformis, susceptibility to, 2 2021-03-30 criteria provided, single submitter clinical testing TMC8 NM_152468.4 exon12 p.Ile509Val (c.1525A>G): This variant has not been reported in the literature but is present in 0.01% (1/16178) of African alleles in in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/17-76134261-A-G). This variant amino acid Valine (Val) is present in several species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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