ClinVar Miner

Submissions for variant NM_139215.3(TAF15):c.1364A>G (p.Tyr455Cys)

gnomAD frequency: 0.00008  dbSNP: rs560923327
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585576 SCV001820415 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001585576 SCV005214675 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004743554 SCV005365444 uncertain significance TAF15-related disorder 2024-07-20 no assertion criteria provided clinical testing The TAF15 c.1364A>G variant is predicted to result in the amino acid substitution p.Tyr455Cys. This variant was reported in an individual with Motor neuron disease (Xie et al 2023. PubMed ID: 36318336). This variant is reported in 0.035% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-34171667-A-G). Although we suspect that this variant may be benign, 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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