ClinVar Miner

Submissions for variant NM_001374675.1(HSF4):c.904del (p.Asp302fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003418886 SCV004114038 likely pathogenic HSF4-related disorder 2024-04-02 no assertion criteria provided clinical testing The HSF4 c.904delG variant is predicted to result in a frameshift and premature protein termination (p.Asp302Metfs*17). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of African descent in gnomAD, which is likely too frequent to be associated with high penetrance. Frameshift variants in HSF4 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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