ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.221_222del (p.Val74fs)

dbSNP: rs767003400
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817746 SCV002069115 pathogenic not provided 2018-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001817746 SCV002169603 pathogenic not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val74Glyfs*2) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs767003400, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TYR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1338375). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003470930 SCV004207589 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-08-05 criteria provided, single submitter clinical testing
GeneDx RCV001817746 SCV005390050 pathogenic not provided 2024-04-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34838614, 37217489)

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