ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1424_1433del (p.Trp475fs)

dbSNP: rs1402167763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593927 SCV000707085 likely pathogenic not provided 2017-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530706 SCV004710225 pathogenic TYR-related disorder 2023-12-30 no assertion criteria provided clinical testing The TYR c.1424_1433del10 variant is predicted to result in a frameshift and premature protein termination (p.Trp475Serfs*7). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in TYR are expected to be pathogenic and therefore we interpret c.1424_1433del (p.Trp475Serfs*7) as pathogenic.

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